Motor neuron connecting to muscle fiber

FDA approves muscular dystrophy drug built on Children’s National research



Motor neuron connecting to muscle fiber

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease.



Boys with Duchenne muscular dystrophy (DMD) have a clinically proven, new treatment option with the Food and Drug Administration’s approval of vamorolone, a steroidal-type, anti-inflammatory drug developed based on research performed at Children’s National Hospital.

Created by ReveraGen BioPharma Inc., vamorolone has a molecular structure similar to traditional corticosteroids, which are currently used to treat DMD. Yet its structure was found to be chemically different enough to reduce unwanted side effects, including brittle bones and reduced stature. Nearly two decades ago, ReveraGen leaders – President and CEO Eric Hoffman, Ph.D., and Vice President for Research Kanneboyina Nagaraju, D.V.M., Ph.D. – launched research efforts into the drug when they led the Center for Genetic Medicine Research at Children’s National. They worked with then-Chief Academic Officer Mark Batshaw, M.D., on the new clinical option.

“Throughout my career, I have treated children with DMD, and I have seen over time how their shorter heights and brittle bones impact them physically and emotionally – in terms of their self-esteem and ability to participate in activities,” Dr. Batshaw said. “This drug should help these boys function more effectively and prevent certain long-term complications.”

The patient benefit

Muscular dystrophy includes a group of degenerative genetically inherited neuro-muscular diseases that strike only boys. DMD is the most common, severe and life-threatening form of muscular dystrophy. ReveraGen studied vamorolone for patients ages two years and up in the hopes of providing a new, FDA-approved treatment option for these children. In clinical trials, daily treatment with vamorolone improved muscle strength and stature with results comparable to prednisolone, but without some of the most impactful side effects of steroids, particularly the stunted growth and weakened bones.

Children’s National Hospital leads the way

Kolaleh Eskandanian, Ph.D., M.B.A., P.M.P., vice president and chief innovation officer for Children’s National, said Drs. Hoffman and Nagaraju’s work on the drug paved the way for entrepreneurship at the hospital, as they were the first faculty members to launch a spin-off company. Since then, more than 130 faculty members have been named as inventors on 132 patents. Children’s National is now home to Innovation Ventures, the hospital’s intellectual property development and commercialization arm, which provides guidance and resources to academic entrepreneurs who introduce a concept for pediatric medical products.

“We cannot wait to see the tremendous effort behind vamorolone in the hands of patients and clinicians treating Duchenne muscular dystrophy,” Eskandanian said. “Today’s FDA approval for ReveraGen shows the importance of supporting clinicians and researchers who are developing solutions to advance healthcare for children.”

Why we’re excited

Hoffman said the drug has been through a series of clinical trials showing advantages over the current treatment options. In 2024, Catalyst Pharma will market vamorolone under the trade name Agamree in the United States.

“Vamorolone was developed using a different business model and drug development approach, including partnerships with the National Institutes of Health, Department of Defense, the European Commission and more than a dozen international nonprofit foundations,” Dr. Hoffman said. “The collaborative, community-engaged approach—including 32 academic clinical sites in 11 countries — and the participation of hundreds of DMD families led to this approval today.”

collage of hyperspectral imaging (sHSI) camera and brain surgery

Novel camera + machine learning = hope for more precise neurosurgery

collage of hyperspectral imaging (sHSI) camera and brain surgery

Researchers at Children’s National Hospital developed a compact imaging camera capable of seeing beyond the human visual spectrum to help segment healthy brain tissue from tumors during surgery. The groundbreaking technology will allow neurosurgeons to make more precise, real-time decisions in the operating room, rather than sending samples to pathology labs for biopsies.

In a manuscript published in Bioengineering, the team of engineers and neurosurgeons details how its snapshot hyperspectral imaging (sHSI) camera can be used to capture and process images of brain tissue, using the wide spectrum of light between visible and infrared wavelengths. That additional information — beyond the human eye — has the potential to allow for more accurate and complete tumor removal.

“In the hands of a neurosurgeon, this camera, when combined with machine learning, could dramatically improve outcomes for some of our most vulnerable brain tumor patients,” said Richard Jaepyeong Cha, Ph.D., an optical engineer and principal investigator at the Sheikh Zayed Institute of Pediatric Surgical Innovation. “We are able to attach the camera to a surgical microscope and process a significant amount of information from the patient while in the operating room. Not only could this lead to more complete tumor resection, it will also allow the surgeon to save as much healthy brain tissue as possible and reduce lifelong neurological complications.”

Why we’re excited

Brain tumors are the most common solid tumors in children, accounting for the highest number of pediatric cancer deaths globally each year. To develop a treatment plan, neurosurgeons need to understand the tumor’s features, including its type, grade of malignancy, location and its categorization as a primary or metastatic cancer. This information leads to decisions about how to remove or biopsy a tumor.

Under the current protocols, surgeons evaluate tumor margins in the operating room by examining the appearance of the brain tissue and sending out small samples to the pathology department for biopsies. This can lead to longer surgeries and difficult real-time surgical decisions. For instance, some low-grade tumors are visually indistinguishable from healthy brain tissue.

In four investigational cases approved by the hospital’s institutional research board, the sHSI camera was used in the operating room to help segment healthy pediatric brain tissue from tumors. Unlike the conventional red-green-blue (RGB) imaging cameras, which use only those three colors, HSI captures spectral data at each pixel of the image — a task too complex for the human eye — and sends it instantly for processing by an algorithm designed to assist in tumor segmentation.

What’s ahead

Despite the small dataset, the researchers were able to successfully segment healthy brain tissue from lesions with a high specificity during pediatric brain tumor resection procedures. Significant work remains to refine the technology and the machine learning behind it. Researchers also plan to integrate the sHSI camera into a laparoscope to visualize tumors that are not on the brain’s surface and collect data from more angles.

“As we develop these groundbreaking tools, we plan to continue to expand the dataset and refine the algorithm to make pediatric neurosurgery continually more precise,” said Naomi Kifle, M.S., research and development engineer at Children’s National and first author on the paper. “As our dataset grows, we hope to create a model that can distinguish healthy brain tissue, tumor and skull. This groundbreaking surgical tool shows significant promise.”

Winners of the International Conference on Medical Image Computing and Computer Assisted Intervention

AI team wins international competition to measure pediatric brain tumors

Winners of the International Conference on Medical Image Computing and Computer Assisted Intervention
Children’s National Hospital scientists won first place in a global competition to use artificial intelligence (AI) to analyze pediatric brain tumor volumes, demonstrating the team’s ground-breaking advances in imaging and machine learning.

During the International Conference on Medical Image Computing and Computer Assisted Intervention (MICCAI), the Children’s National team demonstrated the most accurate algorithm to study the volume of brain tumors – the most common solid tumors affecting children and adolescents and a leading cause of disease-related death at this young age. The technology could someday help oncologists understand the extent of a patient’s disease, quantify the efficacy of treatments and predict patient outcomes.

“The Brain Tumor Segmentation Challenge inspires leaders in medical imaging and deep learning to try to solve some of the most vexing problems facing radiologists, oncologists, computer engineers and data scientists,” said Marius George Linguraru, D.Phil., M.A., M.Sc., the Connor Family Professor in Research and Innovation and principal investigator in the Sheikh Zayed Institute for Pediatric Surgical Innovation. “I am honored that our team won, and I’m even more thrilled for our clinicians and their patients, who need us to keep moving forward to find new ways to treat pediatric brain tumors.”

Why we’re excited

With roughly 4,000 children diagnosed yearly, pediatric brain tumors are consistently the most common type of pediatric solid tumor, second only to leukemia in pediatric malignancies. At the urging of Linguraru and one of his peers at the Children’s Hospital of Philadelphia, pediatric data was included in the international competition for the first time, helping to ensure that children are represented in medical and technological advances.

The contest required participants to use data from multiple institutions and consortia to test competing methods fairly. The Children’s National team created a method to tap into the power of two types of imaging and machine learning: 3D convolutional neural network and 3D Vision Transformer-based deep learning models. They identified regions of the brain affected by tumors, made shrewd data-processing decisions driven by the team’s experience in AI for pediatric healthcare and achieved state-of-the-art results.

The competition drew 18 teams who are leaders from across the AI and machine learning community. The runner-up teams were from NVIDIA and the University of Electronic Science and Technology of China.

The big picture

“Children’s National has an all-star lineup, and I am thrilled to see our scientists recognized on an international stage,” said interim Executive Vice President and Chief Academic Officer Catherine Bollard, M.D., M.B.Ch.B., director of the Center for Cancer for Immunology Research. “As we work to attack brain tumors from multiple angles, we continue to show our exceptional ability to create new and better tools for diagnosing, imaging and treating these devastating tumors.”

Patient and doctor demoing Rare-CAP technology

M.D. in your pocket: New platform allows rare disease patients to carry medical advice everywhere

When someone has a rare disease, a trip to the emergency room can be a daunting experience: Patients and their caregivers must share the particulars of their illness or injury, with the added burden of downloading a non-specialist on the details of a rare diagnosis that may change treatment decisions.

Innovators at Children’s National Hospital and Vanderbilt University Medical Center, supported by Takeda, are trying to simplify that experience using a new web-based platform called the Rare Disease Clinical Activity Protocols, or Rare-CAP. This revolutionary collection of medical information allows patients to carry the latest research-based guidance about their rare disorders in their phones, providing a simple QR code that can open a trove of considerations for any medical provider to evaluate as they work through treatment options for someone with an underlying rare disease.

“No one should worry about what happens when they need medical help, especially patients with rare diseases,” said Debra Regier, M.D., division chief of Genetics and Metabolism at Children’s National and Rare-CAP’s lead medical advisor. “We built this new tool because I have watched as my patient-families have wound up in an emergency room — after all, kids get sprains or fractures — but they don’t have the expertise of a rare disease specialist with them. My hope is that they’re going to pull out their phones and access Rare-CAP, which will explain their rare disease to a new provider who can provide more thoughtful and meaningful care.”

The big picture

A rare disease is defined as any disorder that affects less than 200,000 people in the United States. Some 30 million Americans are believed to be living with one of the 7,000 known rare disorders tracked by the National Organization of Rare Diseases (NORD). Led by Dr. Regier, the Rare Disease Institute at Children’s National is one of 40 NORD centers for excellence in the country that provide care, guidance and leadership for the wide array of disorders that make up the rare disease community.

While a key goal of Rare-CAP is to bolster patient self-advocacy, the platform will also allow medical providers to proactively search for protocols on rare diseases when they know they need specialized advice from experts at Children’s National, a network of tertiary care centers and patient organizations.

As a leading values-based, R&D-driven biopharmaceutical company, Takeda has committed $3.85 million to the project to help activate meaningful change and empower a brighter future for rare disease communities, providing a unique understanding of the struggle that patients and caregivers face when they need care.

“Our team, alongside the medical and rare disease community, saw the need for a single portal to collect standardized care protocols, and we are thrilled to see this innovative tool come to life,” said Tom Koutsavlis, M.D., head of U.S. Medical Affairs at Takeda. “People with rare diseases and their caregivers need faster access to authoritative medical information that providers anywhere can act on, this will lead to improving the standard of care, accelerating time to diagnosis and breaking down barriers to increase equitable access.”

The patient benefit

The creators of Rare-CAP imagined its use in a wide range of settings, including emergency rooms, surgical suites, dental offices, urgent care offices and school clinics. The platform will eventually profile thousands of rare diseases and lay out the implications for care, while also creating a dynamic conversation among users who can offer updates based on real-world experience and changes in medical guidance.

“Our patients are unique, and so is this tool,” Dr. Regier said. “As we roll out Rare-CAP, we believe it is just the beginning of the conversation to expand the platform and see its power for the patient and provider grow, with each entry and each new rare disease that’s added to the conversation.”

Catherine Limperopoulos

Imaging reveals altered brain chemistry of babies with CHD

Researchers at Children’s National Hospital used magnetic resonance spectroscopy to find new biomarkers that reveal how congenital heart disease (CHD) changes an unborn baby’s brain chemistry, providing early clues that could someday guide treatment decisions for babies facing lifelong health challenges.

Published in the Journal of the American College of Cardiology, the findings detail the ways that heart defects disrupt metabolic processes in the developing brain, especially during the third trimester of pregnancy when babies grow exponentially.

“Over the past decade, our team has been at the forefront of developing safe and sophisticated ways to measure and monitor fetal brain health in the womb,” said Catherine Limperopoulos, Ph.D., director of the Center for Prenatal, Neonatal and Maternal Health Research at Children’s National. “By tapping into the power of advanced imaging, we were able to measure certain maturational components of the brain to find early biomarkers for newborns who are going to struggle immediately after birth.”

The fine print

In one of the largest cohorts of CHD patients assembled to date, researchers at Children’s National studied the developing brains of 221 healthy unborn babies and 112 with CHD using magnetic resonance spectroscopy, a noninvasive diagnostic test that can examine chemical changes in the brain. They found:

  • Those with CHD had higher levels of choline and lower levels of N-Acetyl aspartate-to-choline ratios compared to healthy babies, potentially representing disrupted brain development.
  • Babies with more complex CHD also had higher levels of cerebral lactate compared to babies with two ventricle CHD. Lactate, in particular, is a worrying signal of oxygen deprivation.

Specifically, elevated lactate levels were notably increased in babies with two types of heart defects: transposition of the great arteries, a birth defect in which the two main arteries carrying blood from the heart are switched in position, and single ventricle CHD, a birth defect causing one chamber to be smaller, underdeveloped or missing a valve. These critical heart defects generally require babies to undergo heart surgery not long after birth. The elevated lactate levels also were associated with an increased risk of death, highlighting the urgency needed for timely and effective interventions.

The research suggests that this type of imaging can provide a roadmap for further investigation and hope that medicine will someday be able to better plan for the care of these children immediately after their delivery. “With important clues about how a fetus is growing and developing, we can provide better care to help these children not only survive, but thrive, in the newborn period and beyond,” said Nickie Andescavage, M.D., Children’s National neonatologist and first author on the paper.

The big picture

CHD is the most common birth defect in the United States, affecting about 1% of all children born or roughly 40,000 babies each year. While these defects can be fatal, babies who survive are known to be at significantly higher risk of lifelong neurological deficits, including lower cognitive function, poor social interaction, inattention and impulsivity. The impact can also be felt in other organ systems because their hearts did not pump blood efficiently to support development.

Yet researchers are only beginning to pinpoint the biomarkers that can provide information about which babies are going to struggle most and require higher levels of care. The National Institutes of Health (NIH) and the District of Columbia Intellectual and Developmental Disabilities Research Center supported the research at Children’s National to improve this understanding.

“For many years we have known that the brains of children with severe heart problems do not always develop normally, but new research shows that abnormal function occurs already in the fetus,” said Kathleen N. Fenton, M.D., M.S., chief of the Advanced Technologies and Surgery Branch in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI). “Understanding how the development and function of the brain is already different before a baby with a heart defect is born will help us to intervene with personal treatment as early as possible, perhaps even prenatally, and improve outcomes.”

Note: This research and content are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The NIH provided support for this research through NHLBI grant R01HL116585 and the Eunice Kennedy Shriver National Institute of Child Health and Human Development grant P50HD105328.

child being evaluated for autism

Using a multisystem approach to improve access to autism care in Washington, D.C.

child being evaluated for autism

Children with autism face significant barriers to accessing evaluations and intervention services.

An article in the journal Pediatrics reviews the outcomes from a collective, targeted advocacy approach to improving access to autism supports and resources for children and their families in Washington, D.C. The effort was led by Children’s National Hospital and engaged a multidisciplinary team from within the hospital and across a wide range of community sectors.

What this means

Children’s National and DC Autism Parents worked collaboratively with a coalition of organizations from the broader District of Columbia community to address some of the biggest challenges and barriers that prevent autistic children and their families from receiving the resources and support they need in the nation’s capital.

Why it matters

Children with autism face significant barriers to accessing evaluations and intervention services often because of confusing referral processes, lack of centralized coordination across organizations serving children with autism, insurance coverage gaps, multiyear waitlists for diagnostic services and limited provider knowledge about autism. Racism and systemic inequities also persist in autism care across the United States.

Long and growing wait times in autism diagnostic clinics and lack of centralized care coordination for autistic children are prevalent across the District of Columbia, and as a result, many children and families in the region continue to lack access to the support they need.

What’s unique

The study describes multiyear efforts (2017–2022) to improve autism care throughout the District of Columbia using a collective impact framework to unite organizations from different sectors. This approach features the creation of a common agenda (including defining goals and priorities), shared measurement, mutually reinforcing activities, continuous communication and infrastructure support.

Together, the group members sought to address barriers and overcome challenges at multiple levels of the healthcare system at the same time by focusing advocacy in three specific areas:

  • Infrastructure-building initiatives/system-level approaches.
  • Population- and community-level services to build capacity and connect providers and families to needed resources.
  • Direct services that provide innovative, gap-filling supports to children and families as a stopgap until the necessary supports can be more sustainably provided across the board.

Bottom line

While more work is needed to continue expanding the availability of needed services, the findings from this initial effort can inform the next steps in Washington, D.C., and serve as a model for a collective framework approach for autism services in other parts of the United States.

You can read the full study “A Multisystem Approach to Improving Autism Care” in the journal Pediatrics.

More information and resources about these autism initiatives can be found at:

Drs. Robert Keating, Brian Rood and Catherine Bollard

Children’s National announces new professorships

Drs. Robert Keating, Brian Rood and Catherine Bollard

Robert Keating, M.D., Brian Rood, M.D., and Catherine Bollard, M.D., M.B.Ch.B.

Children’s National Hospital named Robert Keating, M.D., as the McCullough Distinguished Professor of Neurosurgery. He serves as the chief of neurosurgery and co-director of the high-intensity focused ultrasound (HIFU) program at Children’s National.

Children’s National Hospital named Brian Rood, M.D., as the Kurt D. Newman, M.D., Professor of Neuro-Oncology. He serves as director of clinical neuro-oncology and medical director of the Brain Tumor Institute at Children’s National.

Children’s National Hospital elevated Catherine Bollard, M.D., M.B.Ch.B., to the Dr. Robert J. and Florence T. Bosworth Distinguished Professor of Cancer and Transplantation Biology Research. She is the Interim Executive Vice President and Chief Academic Officer and Interim Director, Children’s National Research Institute. She also serves as the director of the Center for Cancer and Immunology Research and director of the Program for Cell Enhancement and Technologies for Immunotherapy at Children’s National.

About the awards

Professorships at Children’s National support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and donor’s forethought to advance and sustain knowledge. Children’s National is grateful for its generous donors, who have funded 47 professorships.

Dr. Keating is a longstanding leader in neurosurgery research and care. His areas of expertise include brain tumors, traumatic brain injuries, craniofacial anomalies, Chiari malformations and spinal dysraphism. With Dr. Keating’s leadership, the neurosurgery department is pioneering innovations such as HIFU, a non-invasive therapy using focused ultrasound waves to ablate a focal area of tissue. It can treat tumors located in difficult locations of the brain, movement disorders and epilepsy. Children’s National was one of the first pediatric hospitals in the nation to use HIFU for neuro-oncology patients.

“Our goal is to elevate our top-ranked program to even greater heights,” says Dr. Keating. “We will continue to use cutting-edge technology and non-invasive approaches to make the knife obsolete in pediatric neurosurgery and improve outcomes for children.”

Dr. Rood studies the biology of pediatric brain tumors. He focuses on protein signatures and biomarkers specific to different types of brain cancers. His study of neoantigens is informing the development of T-cell immunotherapies to target a tumor’s unique proteins.

“Immunotherapy is revolutionizing how we treat childhood brain tumors — safely, effectively and with the precision made possible by using a patient’s own cells,” says Dr. Rood. “This professorship enables our team to advance this revolution, which will save lives and improve lifetimes.”

Dr. Bollard received the Dr. Robert J. and Florence T. Bosworth Professor of Cancer and Transplantation Biology Research in 2018 to support her work to develop cell and gene therapies for patients with cancer and underlying immune deficiencies. Her professorship has been elevated to a distinguished professorship to amplify her research and celebrate her accomplishments in the field of immunotherapy.

About the donor

These appointments were made possible through an extraordinary $96 million investment from an anonymous donor family for rare pediatric brain tumor research and care. It is one of the hospital’s largest donations and will transform the hospital’s ability to give patients with rare brain cancer a better chance at healthy lifetimes.

The anonymous family brings a depth of compassion for children facing rare and often challenging diagnoses. Their partnership will immediately advance every aspect of our globally recognized leadership to create new, more effective treatments.

Their investment also endowed the Professorship in Molecular Neuropathology. We look forward to bestowing that honor on a Children’s National pediatric leader.

model of the brain

A new way to treat pediatric gliomas with BRAF V600 mutations

model of the brain

Gliomas account for 45% of all pediatric tumors of the central nervous system.

Gliomas, which can be classified according to histologic grade as high or low grade, account for 45% of all pediatric tumors of the central nervous system. Detection of the BRAF V600E mutation in pediatric low-grade glioma has been associated with a lower response to standard chemotherapy. In previous trials, dabrafenib (both as monotherapy and in combination with trametinib) has shown efficacy in recurrent pediatric low-grade glioma with BRAF V600 mutations, findings that researchers found warrant further evaluation of this combination as first-line therapy.

The big picture

In a recent study published in the New England Journal of Medicine, experts found that among a randomized cohort of 110 children with low-grade glioma with BRAF V600 mutations, dabrafenib plus trametinib resulted in significantly more responses, longer progression-free survival and a better safety profile than standard chemotherapy as first-line therapy.

“For the past 20 to 30 years, the only effective safe therapy was chemotherapy. In older children, radiation can also be effective, but there’s reluctance on using radiation on a developing brain,” said Roger Packer, M.D., director of the Brain Tumor Institute at Children’s National Hospital and co-author of the study. “As we learned the specific molecular genetic makeups of these tumors, either high- or low-grade gliomas, we found it to be effective to use molecular therapies. These are safer and more effective than chemotherapy alone.”

Dr. Packer also added that there’s approval from the FDA, proving that the industry sees value in investing in pediatrics.

Why it matters

This randomized trial shows the superiority of dabrafenib plus trametinib as a first systemic therapy for pediatric patients with low-grade glioma with BRAF V600 mutations as compared with carboplatin plus vincristine, the standard chemotherapy approach. This benefit was evident in the higher independently determined response, longer progression-free survival and better side-effect profile as reflected in the lower frequency of treatment discontinuation because of toxicity.

“Children treated with a molecular targeted therapy could safely tolerate the therapy and had better outcomes than children who were treated with chemotherapy,” Dr. Packer added.

Overall, these findings show the value of early molecular testing in children with low-grade glioma to determine the presence or absence of BRAF V600 mutations.

You can read the full study “Dabrafenib plus Trametinib in Pediatric Glioma with BRAF V600 Mutations” here.

Andrea L. Gropman

Andrea L. Gropman, M.D., FAAP, FACMG, FANA, named as the Margaret O’Malley Professor of Genetic Medicine

Andrea L. GropmanChildren’s National Hospital named Andrea L. Gropman, M.D., FAAP, FACMG, FANA, as the Margaret O’Malley Professor of Genetic Medicine at Children’s National Hospital.

Dr. Gropman serves as Chief of the Division of Neurogenetics and Developmental Pediatrics at Children’s National Hospital. She is also a Professor of Pediatrics and Professor of Neurology at George Washington School of Medicine and Health Sciences.

About the award

Dr. Gropman joins a distinguished group of Children’s National physicians and scientists who hold an endowed chair. The Margaret O’Malley Professor of Genetic Medicine is one of 47 endowed chairs at Children’s National.

Professorships support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and donor’s forethought to advance and sustain knowledge.

Dr. Gropman’s research focuses on neuroimaging, inborn errors of metabolism such as urea cycle disorders and mitochondrial disorders, and neurogenetics. She is the principal investigator of the Urea Cycle Disorders Consortium (UCDC) and the UCDC imaging consortium. She is the deputy clinical director of the Mito EpiGen Program.

Thomas and Mary Alice O’Malley, through their vision and generosity, are ensuring that Dr. Gropman and future holders of this professorship will launch bold, new initiatives to rapidly advance the field of pediatric genetic medicine, elevate our leadership and improve the lifetimes of children with genetic diseases.

About the donors

Tom and Mary Alice O’Malley have partnered with Children’s National to improve the lives of patients with urea cycles disorders for more than two decades. In 2003, their transformational philanthropy helped launch the Urea Cycle Disorders Consortium. This pioneering network grew to include 16-sites worldwide. It garnered 20 years of funding from the NIH’s Rare Diseases Clinical Research Network — the only center to sustain continuous funding over this period. This consortium’s research has yielded multiple effective treatment strategies, including government approval of three lifesaving therapies.

“The O’Malley family’s steadfast generosity helped us grow into the robust community of investigators and families we are today,” says Dr. Gropman. “They transformed care for UCD patients everywhere.”

boy being assessed for concussion

Concussion treatments for children need more priority

boy being assessed for concussion

Concussion treatments for children have continued to evolve but ultimately, need more priority.

The Sport Concussion Assessment Tool (SCAT) tools are used worldwide for children, adolescents and adults to assist in the evaluation and management of sport-related concussions (SRC). The SCAT tools have evolved over time based on clinical findings, clinician input, scientific investigations and systematic reviews of the literature, as recently noted in a paper published by the British Journal of Sports Medicine. It is critically important to identify and diagnose a concussion as early as possible and track its recovery with reliable and valid tools across the full age span from young child to adult.

This systematic review occurs only every four years to summarize the current literature on concussions. A team of leading researchers including Gerard Gioia, Ph.D., director of Safe Concussion Outcome, Recovery and Education (SCORE) Program at Children’s National Hospital and co-author of the paper, found that the SCAT measure has been used mostly with adult and adolescent SRCs but not with children ages 5-12 years.

The tools are helpful to diagnose and track recovery in children, adolescents and adults only up to three days post-injury.  Their lack of sensitivity after this time resulted in the recommendation for a new complementary tool, the Sport Concussion Office Assessment Tool (SCOAT), which Dr. Gioia assisted in developing. One of the SCOAT measures – known as SCOAT6 – is the PACE-Self Efficacy Scale, developed by Dr. Gioia, Christopher Vaughan, Psy.D., neuropsychologist, and other colleagues at Children’s National. This measure assesses and tracks the confidence of children and adolescents in managing their recovery, an important component that underlies successful recovery.

We spoke more with Dr. Gioia about the recent advancements in concussion recommendations.

Q: What’s been the hold-up in the field with respect to children and adolescents?

A: A specific hold-up is that the venues where a sport-related concussion can occur do not have the athletic health professionals or researchers available to identify the injuries early or conduct specific research on their manifestations. Pre-adolescent children are typically seen in emergency rooms or their primary care physicians’ offices and are, therefore, not available to be studied and monitored. The venues for older athletes include high schools, colleges and professional sports stadiums with designated athletic health professionals. We need to find better ways to identify pre-adolescent athletes to understand their diagnostic and recovery needs.

Q: Why is it important to update the literature?

A: The periodic work of the Concussion in Sport Group helps to provide an updated understanding of the injury and improve the tools used to diagnose and treat SRC early in the process and to develop the necessary tools beyond this initial period. Its results have made recommendations for improvement given that some measures are not as sensitive to the injury and need to be modified. For example, tools that need further study and revision include the balance exam, word-list learning and memory measures. It calls for improvements in these assessment tools, which will better define and diagnose the injury.

Q: How will this work benefit patients?

A: Improved sensitivity of the acute measure and a new follow-up assessment measure will result in improved treatment recommendations for patients. Recognition of the dearth of data on SRC in children ages 5-12 will hopefully stimulate efforts to generate this research. The team at Children’s National plans to address this need through our research.

Q: What are some of the new updates that excite you about the future of concussion care?

A: Being able to define the current state of the literature and identify the needs, particularly with children, is exciting. It also stimulates our work at Children’s National to continue to improve our understanding and clinical care of children and adolescents with sport-related concussions.

I have been an active member of the Concussion in Sport Group since 2008 as one of the few pediatric concussion specialists involved for this long. We continue to lead in our clinical research that builds better measures and tools to identify, diagnose and treat these injuries in children.

Hiram receives the first commercial dose of Elevidys

Children’s National gives first commercial dose of new FDA-approved gene therapy for Duchenne muscular dystrophy

Hiram receives the first commercial dose of Elevidys

On the day before his 6th birthday, Hiram, 5, was the first patient ever with DMD to receive the drug after the U.S. Food and Drug Administration (FDA) approved its use last month.

Children’s National Hospital is the first pediatric hospital to administer a commercial dose of Elevidys (delandistrogene moxeparvovec-rokl), the first gene therapy for the treatment of pediatric patients with Duchenne muscular dystrophy (DMD).

On the day before his 6th birthday, Hiram, 5, was the first patient ever with DMD to receive the drug after the U.S. Food and Drug Administration (FDA) approved its use last month.

“The approval of Elevidys opens a new door for young patients with DMD and their families,” says Sarah Wright, D.O., neuromuscular neurologist at Children’s National. “This disease has had limited targeted treatments to date which can help alter the trajectory of disease.”

The background

On June 22, the FDA approved the use of Elevidys for patients 4 through 5 years of age with DMD with a confirmed mutation in the DMD gene who do not have a pre-existing medical reason preventing treatment with this therapy.

DMD is a rare and progressive genetic neuromuscular disease that predominantly affects males. It is caused by genetic changes in the DMD gene that affects the muscles, leading to muscle wasting that gets worse over time. Symptoms include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Muscle weakness is usually noticeable in early childhood when signs like delayed ability to sit, stand or walk, and difficulties learning to speak manifest in a patient.

How it works

Elevidys is a one-time intravenous gene therapy that aims to delay or halt the progression of DMD by delivering a modified, functional version of dystrophin to muscle cells. The dystrophin gene is the largest known human gene.

“Elevidys is a viral vector (the ‘envelope to deliver the gene of interest’) mediated gene therapy that allows for the introduction of a gene that codes for a shortened form of dystrophin protein, or microdystrophin,” Dr. Wright explains. While not a cure for DMD, trials of Elevidys have demonstrated increases in dystrophin expression and improved functional results in young children with the disease.

“We have years of dedicated work on the part of researchers, clinician leaders and advocacy organizations in the field of muscular dystrophy to thank for this ground-breaking moment,” says Dr. Wright. “The approval of Elevidys offers families of patients ages 4-5 with DMD the option to receive this gene therapy that is designed to target the underlying cause of the disease.”

“The time-sensitivity of this medication illustrates the importance of going to a top academic pediatric hospital early on in neurologic care,” adds Elizabeth Wells, M.D., senior vice president of the Center for Neuroscience and Behavioral Medicine at Children’s National.

What’s next

The neuromuscular team at Children’s National is looking forward to offering this therapy to young patients with DMD and to the completion of additional trials/results for therapies in the DMD drug development pipeline.

“The research and approval of novel therapies provides more options for our DMD patients and their families, which is a critical step toward improving the lives of patients with DMD,” Dr. Wright says.

photo of muscle collagen

New Becker muscular dystrophy drug on the horizon

photo of muscle collagen

Muscular dystrophies are a collection of genetic disorders that affect boys and cause progressive loss of muscle strength and disability throughout childhood. They impact the protein dystrophin, and other proteins associated with it, which helps strengthen muscles and protect them from injury.

A new corticosteroid – vamorolone – improves symptoms of Becker muscular dystrophy (BMD) with fewer side effects than the off-label treatments currently offered to patients, according to new research from Children’s National Hospital published in iScience.

Currently, there are no drugs approved to treat BMD, an inherited disorder that causes progressive muscle weakness. In preclinical models, daily treatment with vamorolone improved muscle strength and structure with results comparable to prednisolone, which is sometimes prescribed to patients with BMD. Unlike prednisolone, vamorolone is not known to stunt growth, weaken bone and cause negative behaviors.

“Patients with muscular dystrophy can fall anywhere on the spectrum from asymptomatic to facing life-threatening cardiac complications,” said Christopher Heier, Ph.D., principal investigator at the Center for Genetic Medicine Research at Children’s National. “We are excited to have our eye on a drug that may help manage the disease progression, without all the harmful side effects of the steroids currently being offered.”

The big picture

Muscular dystrophies are a collection of genetic disorders that affect boys and cause progressive loss of muscle strength and disability throughout childhood. They impact the protein dystrophin, and other proteins associated with it, which helps strengthen muscles and protect them from injury.

The FDA has approved four drugs to help mitigate the impact of Duchenne muscular dystrophy (DMD), the most severe and most common form of the disease, with dozens more drugs in the research pipeline for that disease subtype. In some cases, these drugs convert DMD into BMD, which is less severe but still greatly affects the quality of life. As a result, the number of patients living with BMD is growing, yet only two drugs are being studied to treat the Becker form of the disease.

Why we’re excited

The Food and Drug Administration is nearing approval for vamorolone to treat DMD. Researchers including Nikki McCormack, Ph.D., a postdoctoral fellow at Children’s National, found it has an added characteristic that makes it particularly helpful to BMD. “Excitingly, by reducing inflammatory signaling in the muscle, we find vamorolone can actually help to correct the underlying dystrophin protein deficiency in BMD through a newly discovered RNA-targeting mechanism.”

Investigators at Children’s National have been interested in expanding vamorolone’s possible use to BMD. Their work builds upon research finished late last year, when they created the first preclinical model to study drugs that could treat BMD. The model provides tremendous hope for those suffering from BMD around the world.

“By creating a pre-clinical model to test possible treatments, we are creating hope for boys living with this life-changing disorder,” said Alyson Fiorillo, Ph.D., principal investigator at the Center for Genetic Medicine Research at Children’s National. “This model, and the drugs it will lead to, will revolutionize how we treat those children living with this disorder.”

Attendees at the inaugural symposium on AI in Pediatric Health and Rare Diseases

AI: The “single greatest tool” for improving access to pediatric healthcare

Attendees at the inaugural symposium on AI in Pediatric Health and Rare Diseases

The daylong event drew experts from the Food and Drug Administration, Pfizer, Oracle Health, NVIDIA, AWS Health and elsewhere to start building a community aimed at using data for the advancement of pediatric medicine.

The future of pediatric medicine holds the promise of artificial intelligence (AI) that can help diagnose rare diseases, provide roadmaps for safer surgeries, tap into predictive technologies to guide individual treatment plans and shrink the distance between patients in rural areas and specialty care providers.

These and dozens of other innovations were contemplated as scientists came together at the inaugural symposium on AI in Pediatric Health and Rare Diseases, hosted by Children’s National Hospital and the Fralin Biomedical Research Institute at Virginia Tech. The daylong event drew experts from the Food and Drug Administration, Pfizer, Oracle Health, NVIDIA, AWS Health and elsewhere to start building a community aimed at using data for the advancement of pediatric medicine.

“AI is the single greatest tool for improving equity and access to health care,” said symposium host Marius George Linguraru, D.Phil., M.A., M.Sc., principal investigator at the Sheikh Zayed Institute for Pediatric Surgical Innovation. “As a population, kids are vastly underrepresented in scientific research and resulting treatments, but pediatric specialties can use AI to provide medical care to kids more efficiently, more quickly and more effectively.”

What they’re saying

Scientists shared their progress in building digital twins to predict surgical outcomes, enhancing visualization to increase the precision of delicate interventions, establishing data command centers to anticipate risks for fragile patients and more. Over two dozen speakers shared their vision for the future of medicine, augmented by the power of AI:

  • Keynote speaker Subha Madhavan, Ph.D., vice president and head of AI and machine learning at Pfizer, discussed various use cases and the potential to bring drugs to market faster using real-world evidence and AI. She saw promise for pediatrics. “This is probably the most engaging mission: children’s health and rare diseases,” she said. “It’s hard to find another mission that’s as compelling.”
  • Brandon J. Nelson, Ph.D., staff fellow in the Division of Imaging, Diagnostics and Software Reliability at the Food and Drug Administration, shared ways AI will improve diagnostic imaging and reduce radiation exposure to patients, using more advanced image reconstruction and denoising techniques. “That is really our key take-home message,” he said. “We can get what … appear as higher dose images, but with less dose.”
  • Daniel Donoho, M.D., a neurosurgeon at Children’s National, introduced the audience to the potential of “Smart ORs”: operating rooms where systems can ingest surgery video and provide feedback and skill assessments. “We have to transform the art of surgery into a measurable and improvable scientific practice,” he said.
  • Debra Regier, M.D., chief of Genetics and Metabolism at Children’s National, discussed how AI could be used to diagnose and treat rare diseases by conducting deep dives into genetics and studying dysmorphisms in patients’ faces. Already, Children’s National has designed an app – mGene – that measures facial features and provides a risk score to help anyone in general practice determine if a child has a genetic condition. “The untrained eye can stay the untrained eye, and the family can continue to have faith in their provider,” she said.

What’s next

Linguraru and others stressed the need to design AI for kids, rather than borrow it from adults, to ensure medicine meets their unique needs. He noted that scientists will need to solve challenges, such as the lack of data inherent in rare pediatric disorders and the simple fact that children grow. “Children are not mini-adults,” Linguraru said. “There are big changes in a child’s life.”

The landscape will require thoughtfulness. Naren Ramakrishnan, Ph.D., director of the Sanghani Center for Artificial Intelligence & Analytics at Virginia Tech and symposium co-host, said that scientists are heading into an era with a new incarnation of public-private partnerships, but many questions remain about how data will be shared and organizations will connect. “It is not going to be business as usual, but what is this new business?” he asked.

child in hospital bed

$96 million philanthropic investment will transform rare pediatric brain tumor research and care

child in hospital bedChildren’s National Hospital announced a $96 million investment from an anonymous donor family to transform rare childhood brain tumor research and care. The donation, which strengthens our globally recognized leadership in the field, is one of the largest in the hospital’s history.

Children’s National will harness the investment to recruit more top talent and advance the most promising research. This will produce safer, more effective treatments. It also will elevate standards of care to help children with rare brain tumors thrive for a lifetime.

The big picture

Brain tumors are the most common solid tumors affecting children. They are especially challenging in kids because their brains are still developing. The disease and current treatments can put them at risk for lifelong complications.

The anonymous family’s investment provides new hope for patients who face rare and often challenging brain tumor diagnoses — in the Washington, D.C., community and around the world.

“This incredible partnership will lift up one of the nation’s top pediatric brain tumor programs into the stratosphere,” said Kurt Newman, M.D., president and CEO of Children’s National. “It will immediately propel our best-in-class research and care, allowing us to bring new therapies to children with brain tumors. This fundamentally changes the healthcare journey and long-term outcomes for children and their families.”

Why it’s important

This transformational investment will have a far-reaching impact on our ability to save and improve the lives of children with brain tumors. Funds will fuel collaborative breakthroughs across a range of scientific and psychosocial approaches.

The partnership will supercharge highly individualized and promising treatments for children with brain tumors. We will radically transform the research landscape with a focus on:

  • Low intensity focused ultrasound (LIFU) – Advancing laboratory research and a clinical program designed to treat childhood brain tumors with LIFU therapy
  • Cellular immunotherapy – Testing new gene-engineered immune cell products and accelerating their integration into standards of care
  • Rare Brain Tumor Program – Propelling new clinical trials through the hospital’s national and global leadership in pediatric brain tumor consortia. Already, Children’s National is leading a new collaborative with hospitals in North America, South America and Europe to better understand and find novel treatments for these rare diseases
  • Neurosurgery innovation – Exploring multiple ways to perform safer, more effective neurosurgery and developing new methods to enhance drug/agent delivery
  • Precision medicine – Recruiting leading scientists to advance biology-informed therapies that can be targeted for children across a spectrum of brain tumors
  • Good Manufacturing Practices (GMP) facility – Expanding our GMP, one of the first standalone facilities at a children’s hospital in the country, to translate new discoveries into clinical trials more rapidly
  • Additional priorities including expansion of clinical research infrastructure and growth of bioinformatics, brain tumor repository and molecular diagnostics initiatives

The partnership also transforms how we approach care. It will power our pursuit of psychosocial, behavioral health and neuroscientific initiatives to help kids live well and cope with the unique circumstances of their diagnosis. We will focus on:

  • Lifetime health and wellness – Building a world-class research and clinical care program to shape a new paradigm for supporting a child’s physical and emotional health during and long after cancer treatment
  • Child Mental Health & Behavioral Brain Tumor Lab – Establishing a robust neuro-oncology mental health program that delivers timely interventions and specialized psychiatric care for patient well-being
  • Additional priorities including a new Neuroscience Nursing Excellence Program and growth of psychosocial support activities that bring comfort and encouragement to children during their treatment journey

Children’s National is proud to lead the way to a better future for pediatric rare brain tumor patients and expand our internationally recognized capabilities for neuro-oncology care.

U.S. News Badges

Children’s National Hospital ranked #5 in the nation on U.S. News & World Report’s Best Children’s Hospitals Honor Roll

U.S. News BadgesChildren’s National Hospital in Washington, D.C., was ranked #5 in the nation on the U.S. News & World Report 2023-24 Best Children’s Hospitals annual rankings. This marks the seventh straight year Children’s National has made the Honor Roll list. The Honor Roll is a distinction awarded to only 10 children’s hospitals nationwide.

For the thirteenth straight year, Children’s National also ranked in all 10 specialty services, with eight specialties ranked in the top 10 nationally. In addition, the hospital was ranked best in the Mid-Atlantic for neonatology, cancer, neurology and neurosurgery.

“Even from a team that is now a fixture on the list of the very best children’s hospitals in the nation, these results are phenomenal,” said Kurt Newman, M.D., president and chief executive officer of Children’s National. “It takes a ton of dedication and sacrifice to provide the best care anywhere and I could not be prouder of the team. Their commitment to excellence is in their DNA and will continue long after I retire as CEO later this month.”

“Congratulations to the entire Children’s National team on these truly incredible results. They leave me further humbled by the opportunity to lead this exceptional organization and contribute to its continued success,” said Michelle Riley-Brown, MHA, FACHE, who becomes the new president and CEO of Children’s National on July 1. “I am deeply committed to fostering a culture of collaboration, empowering our talented teams and charting a bold path forward to provide best in class pediatric care. Our focus will always remain on the kids.”

“I am incredibly proud of Kurt and the entire team. These rankings help families know that when they come to Children’s National, they’re receiving the best care available in the country,” said Horacio Rozanski, chair of the board of directors of Children’s National. “I’m confident that the organization’s next leader, Michelle Riley-Brown, will continue to ensure Children’s National is always a destination for excellent care.”

The annual rankings are the most comprehensive source of quality-related information on U.S. pediatric hospitals and recognizes the nation’s top 50 pediatric hospitals based on a scoring system developed by U.S. News.

“For 17 years, U.S. News has provided information to help parents of sick children and their doctors find the best children’s hospital to treat their illness or condition,” said Ben Harder, chief of health analysis and managing editor at U.S. News. “Children’s hospitals that are on the Honor Roll transcend in providing exceptional specialized care.”

The bulk of the score for each specialty service is based on quality and outcomes data. The process includes a survey of relevant specialists across the country, who are asked to list hospitals they believe provide the best care for patients with the most complex conditions.

The eight Children’s National specialty services that U.S. News ranked in the top 10 nationally are:

The other two specialties ranked among the top 50 were cardiology and heart surgery, and urology.

sick boy with malaria

New guidance to optimize blood sugar monitoring in cerebral malaria

A Children’s National Hospital research team based in Malawi pinpointed the optimal duration and frequency for monitoring the blood glucose in children with cerebral malaria, providing a roadmap to improve the treatment and outcomes for young patients diagnosed with the life-threatening disease.

Published in the American Journal of Tropical Medicine and Hygiene, the findings analyzed data from 1,674 pediatric cases to recommend the best schedule for periodic bedside point-of-care laboratory testing in children with cerebral malaria (CM). Currently, World Health Organization (WHO) guidelines state that blood glucose should be monitored in all forms of severe malaria, but they do not include advice on the timing or duration of the measurements.

Children’s National neurologist Douglas Postels, M.D., M.S., led a team of trainees from Howard University, The George Washington University, the University of Washington and Children’s National to collect and analyze patient data that led to the creation of evidence-based recommendations for glucose monitoring.

“If blood glucose in children with severe malaria is too low, the child is at high risk of death,” Dr. Postels said. “What we found in this research study is both interesting and important, and we hope our study results will help the WHO in creating evidence-based guidelines for blood glucose monitoring in children with cerebral malaria.”

The big picture

In 2021, 247 million people contracted malaria worldwide, killing some 619,000 primarily in Africa. Almost 80% were children under 5 years old, making it one of the most virulent pediatric diseases in the world. Many who survive experience significant neurologic, cognitive and behavioral morbidities.

Dr. Postels works at Queen Elizabeth Central Hospital in Blantyre, Malawi, caring for patients on the Pediatric Research Ward and conducting research aimed at improving outcomes. The clinical team works without access to many medical tools that are considered standard throughout more advanced economies. Yet this team has one of the lowest mortality rates for cerebral malaria across Africa, thanks to their ongoing research to better understand the pathophysiology of malaria and improve its treatment.

The challenges are immense: During COVID-19, they battled supply chain issues that frustrated repairs on an aging MRI scanner. After the second tropical cyclone struck in the last two years, Blantyre was left without power for a week and without water for a month.

“You can imagine trying to run a hospital with no water,” Dr. Postels said. “During Cyclone Freddy, it was raining like crazy, and people were collecting water in bins—anything they could collect it in — to use for handwashing, as well as trying to clean instruments and supplies.”

What they’re saying

Using evidence-based guidelines to optimize care becomes important in sub-Saharan Africa, where resources are scarce. Running laboratory-based blood studies frequently is an inefficient use of supplies and laboratory reagents. Results of point-of-care testing are also available more rapidly and at less cost than studies performed in hospital labs.

An accompanying editorial in the journal said the new research on glucose monitoring in cerebral malaria “provides valuable data that could help clinicians in resource-limited settings improve CM management with more efficient use of available resources.” The work is increasing calls for further study and updates to international guidelines.

The bottom line

According to the team’s analysis, blood glucose should be measured in children with CM on admission and every six hours for the first 24 hours. If all results in the first 24 hours are normal, clinicians can stop testing.  If any blood sugar levels in the first 24 hours are low, the patient’s blood glucose should be checked for another 24 hours.

“This testing strategy captures 100% of the children who have a glucose level of 2.2 mmol/L or less, the definition of hypoglycemia in severe malaria,” Dr. Postels said.  “We want to do enough, but not too much.”

The overarching goal for Dr. Postels and the trainees who join him in Blantyre is improving care.  “If we can help clinicians better care for children with cerebral malaria, then hopefully we can make a small contribution to decreasing the death rate and improve neurologic outcomes of the children who survive,” he said. “That’s my hope.”

Eugene Hwang

Eugene Hwang, M.D., named as William Seamus Hughes Professor of Neuro-oncology and Immunology

Eugene HwangChildren’s National Hospital named Eugene Hwang, M.D., the inaugural William Seamus Hughes Professor of Neuro-oncology and Immunology. This professorship is the first at Children’s National to focus exclusively on these two pediatric specialties.

Dr. Hwang serves as associate chief of oncology, director of the Clinical Neuro-oncology Immunotherapeutics Program and director of the Neuro-oncology Fellowship Program. He is an associate professor of pediatrics at the George Washington University School of Medicine and Health Sciences.

About the award

Dr. Hwang joins a distinguished group of 42 Children’s National physicians and scientists who hold an endowed chair. Professorships at Children’s National support groundbreaking work on behalf of children and their families and foster new discoveries and innovations in pediatric medicine. These appointments carry prestige and honor that reflect the recipient’s achievements and donor’s forethought to advance and sustain knowledge.

Dr. Hwang has dedicated much of his career to the pursuit of new therapies that improve outcomes for children with brain cancer. He has led many early phase clinical trials on immunotherapeutics, gene therapy and new targeted agents. He participates in international studies focused on reducing harmful side effects of standard treatments. He serves as the principal investigator for the Pediatric Brain Tumor Consortium and co-chairs their Immunotherapy Working Group. Dr. Hwang also lends his time to grant review committees and the scientific advisory boards of several large foundations.

Claire and Kevin Hughes, through their vision and generosity, are ensuring that Dr. Hwang and future holders of this professorship will launch new initiatives to rapidly advance the fields of pediatric neuro-oncology and immunotherapy, elevate our leadership and improve outcomes for children diagnosed with brain cancer.

About the donors

Claire and Kevin Hughes established this professorship with support from community partners in loving memory of their son William Seamus Hughes (Willie). Their dedication to giving all children a chance for life has helped launch groundbreaking trials and research at Children’s National, including one of the first trials in the U.S. to use cell therapy to treat brain tumors.

“Working with Willie meant working with a young man who embodied a resilient, cheerful spirit that was truly remarkable,” said Dr. Hwang. “It meant fighting side-by-side with a walking inspiration, who I continue to remember and who continues to drive the mission of curing childhood brain cancer. I’m deeply honored to ensure that Willie’s spirit and bravery lives on in the promise to other families that face a devastating brain tumor diagnosis.”

mother and baby doing a telehealth call

Using telehealth to study babies born to mothers infected with SARS-CoV-2

mother and baby doing a telehealth call

Continued advancements in telehealth methods to follow child neurodevelopment will help ensure robust child follow-up and inclusion of diverse cohorts.

Multiple studies have shown that SARS-CoV-2 infection can impact pregnant mothers and their fetuses but more research is needed to understand the long-term impact on the neurodevelopment of these children as they get older. Child neurodevelopmental evaluations are typically performed in-person. Since the COVID-19 pandemic began, the transition to telehealth methods was needed.

Continued advancements in telehealth methods to follow child neurodevelopment will help ensure robust child follow-up and inclusion of diverse cohorts, says a commentary in JAMA Network Open.

Why it matters

Commentary author Sarah Mulkey, M.D., prenatal-neonatal neurologist at Children’s National Hospital, highlights a new study that used a novel telehealth method to look for neurodevelopmental differences in infants ages 6-12 months born to mothers with SARS-CoV-2 infection compared to nonexposed infants of the same age and found no differences in neurodevelopment among the two cohorts. The study adapted a standardized assessment to a telehealth method.

“The results of this study provide needed reassurance to the many mothers who have experienced SARS-CoV-2 infection during pregnancy,” says Dr. Mulkey.

What’s been the hold up in the field?

“Developmental assessments that rely on observation of infants’ developmental skills can naturally make the transition to a telehealth platform,” says Sarah Mulkey, M.D., prenatal-neonatal neurologist at Children’s National Hospital and commentary author. “General movement assessment is an observation-based assessment of infants that can be captured by a parent or caregiver on video, and it has been used in neurodevelopmental outcomes studies of children after antenatal SARS-CoV-2 exposure.”

Moving the field forward

Child outcomes research can have improved enrollment and continuity of participant follow-up due to the availability of remote assessments. Neurodevelopmental tools are being developed that can be used on a telehealth platform or by parent recorded videos.

Researchers from the Children’s National Congenital Zika Virus Program have also developed telehealth-based methods for child outcome research that has been utilized in international Zika outcome studies funded by the Thrasher Research Fund and the NIH.

Read the full commentary, Use of Telehealth Methods to Track Infant Neurodevelopment After In Utero SARS-CoV-2 Exposure, in JAMA Network Open.

illustration of a brain's neural activity

Debuting sonodynamic therapy with ALA to treat rare brain tumors

illustration of a brain's neural activity

Preclinical studies show that guided focused ultrasound and ALA can slow growth of gliomas and extend survival.

Children’s National Hospital is conducting a first-in-human study of aminolevulinic acid (ALA) sonodynamic therapy (SDT) for diffuse intrinsic pontine glioma (DIPG).

Preclinical studies led by experts at Children’s National have shown that SDT through MR guided focused ultrasound (MRgFUS) to activate protoporphyrin IX (PpIX), an ALA, can slow growth of gliomas and extend survival in animal models.

In a recently published technical communication in the Journal of Neuro-Oncology, the authors briefly detail the rationale and mechanism behind the use of SDT using ALA for DIPG, review criteria for patient inclusion, and describe the first patient selected for this clinical trial.

“Diffuse intrinsic pontine glioma (DIPG) is a devastating pediatric brain tumor that occurs in children between 2 and 9 years of age,” writes Hasan Syed, M.D., co-director of the Focused Ultrasound Program at Children’s National and lead author of the findings. “Despite standard therapy, prognosis remains poor with an average survival of 9–12 months after diagnosis.”

Future procedures will involve ascending drug and low-intensity focused ultrasound (LIFU) energy dose combinations with evaluations of pharmacokinetics and radiographic evidence of tumor physiological changes.

Screen grab of Dr. Terry Dean and Dr. Vittorio Gallo webinar

In the News: Regenerative brain cells and the circadian clock

Screen grab of Dr. Terry Dean and Dr. Vittorio Gallo webinar

“I am a pediatric intensivist, and I am very interested in some of the pathologies and conditions that I come across in the ICU. We hatched this question that revolved around the idea: what can we do for TBI (traumatic brain injury) patients to enhance their cellular regeneration? …  We looked at NG2-glia in particular, otherwise known as oligodendrocyte precursor cells. They are about 2-8% of the brain…. Do these cells respond to sleep and circadian rhythm? Is it a factor? Does it help? Does it hurt?”

Find out more about what Terry Dean, M.D., Ph.D., says he has learned about these and other questions through his recent research with interim Chief Academic Officer Vittorio Gallo, Ph.D. They join the Society for Neuroscience in a webinar on the circadian rhythms of these important brain cells and how their regeneration may be used someday to promote healing after brain injuries.