When a family from Texas received a shocking diagnosis for their newborn daughter, they knew there was one place they needed to go – Children’s National Hospital in Washington, D.C. At birth, Angelique was diagnosed with a rare and devastating condition known as hemimegalencephaly (HME) which causes uncontrollable and frequent seizures. Monica Pearl, M.D., neurointerventional radiologist, and the team at Children’s National have pioneered an approach to treat HME, where they induce controlled strokes to eliminate the affected part of the brain, halting seizures in their tracks. They’re the only team in the world doing this work. Angelique’s parents knew the clock was ticking — every day they waited meant irreversible damage to their daughter’s developing brain.
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Breakthroughs at the Research & Innovation Campus continued as our researchers worked tirelessly to develop new treatments and therapies that will transform the lives of children and families around the world.
Taking a look at the breakthroughs happening in our now six research centers, we spotlighted the following stories:
Reflecting on decades of progress in the blood, marrow and cell therapy programs at Children’s National. Our researchers have made significant strides in this field, and we are proud to be at the forefront of these life-saving treatments.
In genetic medicine, we continue to be a beacon of hope for families facing rare and complex conditions. Our researchers are making incredible breakthroughs that are changing the landscape of pediatric medicine.
We are also proud to share the $90 million award received from an anonymous donor to support pediatric brain tumor research. The predominant focus of this award is to develop new treatments that will improve outcomes for children with this devastating disease.
This year, we opened a new Center that enhances our research capabilities in the field of Prenatal, Neonatal & Maternal Health Research. We are excited about the possibilities this new center will bring and look forward to the discoveries that will emerge from it.
In addition, we are driving future pandemic readiness with the NIH funded Pediatric Pandemic Network. Our researchers are using cutting-edge technology and innovative approaches to prepare for the next pandemic and protect children.
We are also exploring the potential of artificial intelligence (AI) in pediatric breakthroughs. Our researchers are using machine learning and other AI techniques to develop new treatments and therapies that will transform the lives of children.
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Explore some of the notable medical advancements and stories of bravery that defined 2023, showcasing the steadfast commitment of healthcare professionals at Children’s National Hospital and the resilient spirit of the children they support. Delve into our 2023 news highlights for more.
According to a study published in British Medical Journal Global Health, women who get COVID during pregnancy are nearly eight times more likely to die and face a significantly elevated risk of ICU admission and pneumonia. Sarah Mulkey, M.D., prenatal-neonatologist neurologist, discussed findings based on her work with pregnant women and their babies. (Fortune)
A study led by Christopher Vaughan, Psy.D., pediatric neuropsychologist, suggests that — despite what many people may presume — getting kids back to school quickly is the best way to boost their chance for a rapid recovery after a concussion. (CNN)
David Wessel, M.D., executive vice president, chief medical officer and physician-in-chief, explained that one reason parents were still having trouble getting their children beds in a pediatric hospital or a pediatric unit after the fall 2022 respiratory surge is that pediatric hospitals are paid less by insurance. (CNN)
Anisha Abraham, M.D., M.P.H., chief of the Division of Adolescent and Young Adult Medicine, joined America’s Newsroom to discuss the impact social media access has had on children’s mental health.
(FOX News)
After 13-year-old Antonio was nearly killed outside his mom’s apartment, Children’s National Hospital went beyond treating his bullet wounds. Read how our Youth Violence Intervention Program team supported him and his family during his recovery.
(The Washington Post)
Erin and Jade Buckles underwent a successful separation at Children’s National Hospital. Nearly 20 years later they returned to meet with some of the medical staff who helped make it happen. (Good Morning America)
Shilpa Patel, M.D., M.P.H., medical director of the Children’s National IMPACT DC Asthma Clinic, weighed in on a letter published in Annals of Allergy, Asthma & Immunology, asserting that the disparities in mortality due to asthma in the United States vary based on whether they occurred in a hospital, ethnicity or race and age of the patient. (Healio)
After one family embarked on a perilous journey from Afghanistan through Mexico to the U.S.-Mexico border, they eventually secured entry to the U.S. where Karen Smith, M.D., medical director of Global Services, aided the family’s transition and provided their daughter with necessary immediate medical treatment. (NPR)
With the number of young people shot by guns on the rise in the U.S., providers and staff at Children’s National Hospital are trying to break the cycle of violence. But it’s not just the physical wounds though that need treating: young victims may also need help getting back on the right track — whether that means enrolling in school, finding a new group of friends or getting a job. (BBC News)
Callie, a 6-year-old diagnosed with diffuse intrinsic pontine glioma, was treated with low-intensity focused ultrasound (LIFU) at Children’s National Hospital and is the second child in the world to receive this treatment for a brain tumor. LIFU is an emerging technology that experts like Hasan Syed, M.D., and Adrianna Fonseca, M.D., are trialing to treat this fatal childhood brain tumor. (The Washington Post)
The FDA approved a new genetic therapy, giving people with sickle cell disease new opportunities to eliminate their symptoms. David Jacobsohn, M.B.A., M.D., confirmed that Children’s National Hospital is one of the authorized treatment centers and talked about giving priority to the sickest patients if they are on Vertex’s list.
(The New York Times)
After the potential need for open-heart surgery threatened Caroline’s Nutcracker performance, Manan Desai, M.D., a cardiac surgeon, figured out a less invasive procedure to help reduce her recovery time so she could perform in time for the holidays. (Good Morning America)
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Advanced MRI visualization techniques to follow blood flow in the hearts of cardiac patients. Gene therapy for pediatric patients with Duchenne muscular dystrophy. 3D-printed casts for treating clubfoot. These were among the most popular articles we published on Innovation District in 2023. Read on for our full list.
Cardiac imaging specialists and cardiac surgeons at Children’s National Hospital are applying advanced magnetic resonance imaging visualization techniques to understand the intricacies of blood flow within the heart chambers of children with single ventricle heart defects like hypoplastic left heart syndrome. The data allows surgeons to make critical corrections to the atrioventricular valve before a child undergoes the single ventricle procedure known as the Fontan. (3 min. read)
Children’s National Hospital became 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). 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. (2 min. read)
Researchers at Children’s National Hospital developed a pre-clinical model to test drugs and therapies for Becker Muscular Dystrophy (BMD), a debilitating neuromuscular disease that is growing in numbers and lacks treatment options. The work provides scientists with a much-needed method to identify, develop and de-risk drugs for patients with BMD. (2 min. read)
In 2022, five newborns with life-threatening congenital heart disease affecting their heart rhythms were the first in the United States to receive a novel modified pacemaker generator to stabilize their heart rhythms within days of birth. Two of the five cases were cared for at Children’s National Hospital. In a follow-up article, the team at Children’s National shared that “early post-operative performance of this device has been excellent.” (2 min. read)
Experts from the Food and Drug Administration, Pfizer, Oracle Health, NVIDIA, AWS Health and elsewhere came together to discuss how pediatric specialties can use AI to provide medical care to kids more efficiently, more quickly and more effectively 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. (3 min. read)
The American Academy of Pediatrics (AAP) named a 2019 study led by clinician-researchers at Children’s National Hospital one of the 12 most influential Pediatric Emergency Medicine articles ever published in the journal Pediatrics. The findings showed that states with stricter gun laws and laws requiring universal background checks for gun purchases had lower firearm-related pediatric mortality rates but that more investigation was needed to better understand the impact of firearm legislation on pediatric mortality. (2 min. read)
Children’s National Hospital recently welcomed pediatric and adult colorectal surgeon Erin Teeple, M.D., to the Division of Colorectal and Pelvic Reconstruction. Dr. Teeple is the only person in the United States who is board-certified as both a pediatric surgeon and adult colorectal surgeon, uniquely positioning her to care for people with both acquired and congenital colorectal disease and help them transition from pediatric care to adult caregivers. (3 min. read)
The sickle cell team at Children’s National Hospital received a grant from the Founders Auxiliary Board to launch a first-of-its-kind, personalized holistic transformative program for the management of pain in sickle cell disease. The clinic uses an inter-disciplinary approach of hematology, psychology, psychiatry, anesthesiology/pain medicine, acupuncture, mindfulness, relaxation and aromatherapy services. (3 min read)
Non-invasive prenatal testing using cell-free DNA (cfDNA) is currently offered to all pregnant women regardless of the fetal risk. In a study published in the American Journal of Obstetrics and Gynecology, researchers from Children’s National Hospital provided context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome. (2 min. read)
While clubfoot is relatively common and the treatment is highly successful, the weekly visits required for Ponseti casting can be a significant burden on families. Researchers at Children’s National Hospital are looking for a way to relieve that burden with a new study that could eliminate the weekly visits with a series of 3D-printed casts that families can switch out at home. (1 min. read)
A new validated self-report tool provides researchers with a way to characterize the gender of research participants beyond their binary designated sex at birth. The multi-dimensional Gender Self-Report, developed using a community-driven approach and then scientifically validated, was outlined in a peer-reviewed article in the American Psychologist, a journal of the American Psychological Association. (2 min. read)
In a study published by Advances in Chronic Kidney Disease, a team at Children’s National Hospital reviewed cardiovascular and bone diseases in chronic kidney disease and end-stage kidney disease patients with a focus on pediatric issues and concerns. (1 min. read)
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“Select patients will have the opportunity to participate in research studies focused on cutting-edge genomic investigations into their growth disorders,” says Youn Hee Jee, M.D., M.Med., endocrinologist.
“We’re dedicated to unraveling the mysteries that families have long sought answers to,” says Andrew Dauber, M.M.Sc., M.D., chief of Endocrinology at Children’s National Hospital. “There are numerous endocrine and genetic conditions with the potential to impact a child’s growth. That’s why we’ve assembled a team of leading endocrinologists and geneticists to create a new Growth Specialty Clinic and address these issues with a fresh perspective.”
This team, combined with the expertise of the hospital’s translational scientists, is making significant progress in identifying the causes of a variety of growth disorders and developing innovative treatments. And at the core of this work, Dr. Dauber says, is a recognition of the unique impact endocrine disorders have on each individual child.
Dr. Shur emphasizes the commitment to providing answers for these families. “This collaborative effort goes beyond diagnosis; it opens doors to potential treatment options.”
The Growth Specialty Clinic is for children with severe undiagnosed growth disorders that are suspected to have a genetic etiology and children with rare genetic diagnoses who would benefit from the expertise of practitioners more familiar with those disorders. It is also closely linked to the Center for Genetic Medicine Research.
“Select patients will have the opportunity to participate in research studies focused on cutting-edge genomic investigations into their growth disorders,” says Youn Hee Jee, M.D., M.Med., endocrinologist.
In one case, Dr. Jee identified a new genetic cause of an overgrowth syndrome. Rare genetic conditions known as generalized overgrowth syndromes manifest as excessive body growth during fetal life and/or childhood, frequently resulting in tall stature. She is investigating the mechanisms that promote healthy bone growth.
Additionally, Dr. Jee identified a new genetic cause of short stature. Her research showed that the identified genetic cause impairs the recycling of essential proteins for growth, expanding our knowledge of human growth.
Moving the field forward
“We’re taking innovative approaches to treatment by leveraging our insights into the genetic origin of each patient’s growth disorder,” says Dr. Dauber.
In the brief time since the clinic’s launch, several new diagnoses and treatment pathways have already been offered. In one single-patient study, researchers were able to successfully overcome the patient’s growth hormone resistance using a targeted approach, and the patient has shown significant catch-up growth after one year of treatment.
Children’s National is also at the forefront of other groundbreaking research, launching novel clinical trials that are advancing the field of endocrinology:
Vosoritide clinical trial: Children’s National has the first clinical trial in the world testing Vosoritide in children with certain genetic causes of short stature. Researchers have enrolled approximately 50 subjects with exciting preliminary results for patients with Noonan syndrome, Aggrecan gene mutations and NPR2 gene mutations. All 24 hypochondroplasia patients have completed the 18-month trial. Dr. Dauber intends to present results at the 2024 American College of Medical Genetics meeting in Toronto.
Hypochondroplasia study: Children’s National is the first site to launch BioMarin’s new natural history study for children with hypochondroplasia which will also be a lead into their future Phase 3 trial.
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Unraveling how cells mend after injury serves as a key to unlocking potential therapies. Recent findings from the Center for Genetic Medicine Research at Children’s National Hospital offered surprising insights into the cell’s healing mechanisms by illuminating the intricate cellular responses to various types of injuries.
The study, featured on the back cover of the latest issue of Advanced Science, found that cells respond in distinct ways depending on the type of injury, such as a traumatic muscle tear that creates a large injury or tiny holes in the cell membrane caused by pathogenic proteins. Daniel Bittel, DPT, Ph.D., a research postdoctoral fellow at the Center for Genetic Medicine Research, said that cells are routinely injured from even everyday activities, such as walking up a flight of stairs.
“Injuries often involve damage to the plasma membrane,” Bittel said. “We wanted to investigate how healing happens at the subcellular level to better understand diseases and develop targeted therapies. We were especially curious about muscle cells because, interestingly, healthy ones get stronger the more that they are injured.”
The fine print
Using the center’s unique, custom-built microscope, the research team zoomed in on the process of cellular healing to watch how cells activate repair after injuries. Using a laser to damage the plasma membrane, they mimicked mechanically induced trauma. They also used a pathogen-derived protein to create nanoscale pinprick injuries in a cell’s plasma membrane that resemble those that are seen after strenuous muscle exertion.
Then, they watched as cells went to work within seconds, engaging healing mechanisms tailored to the type of injury. In the case of a cell facing numerous pinpricks along the cell membrane, it immediately deployed the endocytic pathway used by the cells to eat and drink. This process helped remove the injurious agents and the tiny holes they made. However, with a larger mechanical injury, the cells demonstrated patience, allowing the plasma membrane to seal before clearing up the damage by the same endocytic pathway.
The big picture
The paper is part of an ongoing body of research on cell injury that will inform future investigations into a wide range of pediatric health issues including muscular dystrophies, injuries to neurons, orthopedic injuries from sports and other mechanical damage to tissues.
Jyoti Jaiswal, M.Sc., Ph.D., senior investigator at the Center for Genetic Medicine Research, said this work is foundational in the development of new therapies. “Knowing where the problem lies will help us figure out what therapy will work best and target the therapy to address the specific deficit,” he said. “This work will pave the way to help tailor therapies and tackle diseases more effectively.”
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The international NexTGen team assembled at the Children’s National Research & Innovation Campus for their annual meeting to share progress made in their first full year of work on the $25-million Cancer Grand Challenge, focused on creating a CAR T-cell therapy for pediatric solid tumors.
“It was invigorating to bring the whole team together from our eight institutions in the U.S., U.K. and France, as we uncover opportunities in our research and share the headway that we have made,” said Catherine Bollard, M.D., M.B.Ch.B., director of the Center for Cancer and Immunology Research and interim chief academic officer at Children’s National Hospital. “Breakthroughs happen when Team Science collaborates, and that is exactly what is happening here with the NexTGen team.”
Why we’re excited
Over the course of two days, more than 85 team members met to discuss the six work packages that are coming together, with the ambitious goal of making CAR T-cell therapies the standard of care for solid tumors within the next decade:
Discovery of new targets
The tumor microenvironment
Component engineering
Integration and modeling
Clinical studies
Data integration
Each work package includes a patient advocate – individuals with a personal connection to cancer as a family member or survivor – who offers their invaluable perspectives on the research and treatment process. Many attended the meeting, sitting alongside the oncologists, immunologists, mathematicians, molecular biologists and other leading experts.
The big picture
The Cancer Grand Challenges are funded by grants from the National Cancer Institute, Cancer Research U.K. and the Mark Foundation for Cancer Research. Their goal is to drive progress against cancer by empowering global leaders in the research community to take on tough challenges and think differently.
“They call it a ‘grand challenge’ for a reason,” Dr. Bollard said. “It’s going to take the effort and expertise of all these individuals to make a new therapy a reality. I have confidence that we can do it.”
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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.”
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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.”
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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 theNIH. The NIH provided support for this research through NHLBI grantR01HL116585 and theEunice Kennedy Shriver National Institute of Child Health and Human Developmentgrant P50HD105328.
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There will be over 20 Children’s National Hospital-affiliated participants at this year’s American Academy of Pediatrics National Conference and Exhibition. The meeting will take place in Washington, D.C., from October 20 – October 24. We have compiled their sessions into a mini schedule below.
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When children are diagnosed with pediatric cancer, most doctors are forced to reach for the same standard therapies that were available decades ago. Research oncologists at Children’s National Hospital are changing that with clinical trials that will hopefully train the body’s immune system – specifically its T cells – to fight the tumors.
“At Children’s National, we have a novel immunotherapy to offer to patients with relapsed or refractory solid tumors,” said Meany, director of the Solid Tumor Program. “This is a patient population who has failed standard therapy, so new technologies and treatments are always needed in this group.”
Where we started
Meany’s trial laid the foundation. She began the center’s research using a patient’s own blood sample to develop a targeted therapy and evaluate the safety and efficacy of this approach. In her study, scientists isolated the T cells, grew millions in a lab and reinfused them into the patient. The cells were replicated in an environment that was rich in three proteins that are commonly found on the surface of solid tumor cancer cells.
“Our hope and hypothesis are that when we give the T cells back to the patient, those T cells circulate and hunt down the cancer cells that have the tumor proteins,” Meany said. “We are hoping to use the patient’s own immune system to attack the cancer in an enduring way.”
Where we are headed
Hont’s phase 1 trial, which is currently recruiting participants, builds on Meany’s work using a healthy donor whose T cells have not been impacted by chemotherapy or other treatments. The cells can be prepared, stored and readily available for patients who need them. They are also matched through specific proteins on the patient’s own cells to bolster their effectiveness. The participants in this trial have Wilms tumors, rhabdomyosarcoma, neurosarcoma, soft tissue sarcoma or neuroblastoma, but conventional therapies including chemotherapy, radiation or surgery were unable to fully treat the disease.
In both studies, Hont said that the T cells have been given in an outpatient setting with fewer side effects compared to other cancer treatments aimed at high-risk malignancies.
“This allows patients to really maintain a good quality of life during a particularly hard time,” Hont said. “Also, these T cells are designed to act in the body the way that our immune system acts in a physiologic way. This means patients typically don’t have the severe side effects that we think of with chemotherapy or other therapies.”
Children’s National leads the way
The team at Children’s National is one of the few in the country to offer this kind of T-cell therapy for solid tumors. “Immunotherapy has been challenging for this patient population because the tumors are adept at finding out ways to evade treatment,” Hont said. “Giving patients a chance to receive a targeted T-cell therapy, while also maintaining a high quality of life, is something that’s special here.”
https://innovationdistrict.childrensnational.org/wp-content/uploads/2023/09/child-with-cancer-CNRI-feature.png385685Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2023-09-19 12:11:302023-09-19 12:15:17A destination for pediatric oncology care: Children’s National Hospital’s T-cell therapy trials
Leading genetic researchers at Children’s National Hospital have published the first pan-cancer atlas of key mutations that can drive molecular changes leading to tumors, creating a roadmap that could lead to new treatments for brain tumors and other cancers.
The research – published in npj Genomic Medicine – presents the first-of-its-kind atlas of histone mutations across pediatric, adolescent/young adult and adult cancers. The novel genetic work offers a framework allowing specific cancers to be redefined in the context of changes in histones, which are essential proteins that provide the structural support for chromosomes.
The big picture
“One of the major challenges that we face every day with pediatric, aggressive tumors, including pediatric high-grade gliomas, is that these tumors grow fast. Doctors often have to give patients 9 to 12 months from diagnosis,” said Javed Nazarian, Ph.D., scientific director of the Brain Tumor Institute at Children’s National and principal investigator at the Center for Genetic Medicine Research. “Children’s National has put together a team of clinicians that are truly devoted to finding a therapy for pediatric high-grade gliomas and aggressive pediatric brain tumors. Our dedicated team empowers translational research, from bench to bedside and reverse translation.”
In 2023, the American Cancer Society estimates that 9,910 children under age 15 will be diagnosed with cancer, making it the second leading cause of death among children. Because of treatment advances, 85% will survive, but many will be left with lifelong disabilities from their treatment. Nazarian and his team believe that identifying the underlying molecular alterations leading to cancers will be essential to finding new therapies that extend life expectancies and preserve quality of life.
The fine print
Histones are essential cellular structures, which prevent DNA from getting tangled. Nazarian and other researchers are investigating whether errors in histones could lead to cancers, including high-grade gliomas and other particularly sinister tumors that can strike young children. By mapping the mutations of the histone-encoding genes, Nazarian and his team believe they can find the drivers of tumors in many pediatric and adult cancers. In studying more than 12,000 tumors for the pan-cancer atlas, they cataloged patient ages, survival outcomes and tumor locations to reveal important trends among different cancers.
Overall, the team found that 11% of tumors had somatic histone mutations, with the highest rates observed among chondrosarcoma, a type of bone cancer (67%); pediatric high-grade glioma, a type of cancer that attacks glial cells in the brain and spinal cord (>60%); and lymphoma, a category of cancers in the lymph system (>30%).
“I think one implication of our study is that we are looking at the epigenomic changes of these mutations in a new light,” Nazarian said. “These mutations are not just specific to a particular tumor type, but they are indeed across a large spectrum of cancer types, and they come in different flavors that could potentially show a new avenue for treatments.”
https://innovationdistrict.childrensnational.org/wp-content/uploads/2023/09/nucleosome-CNRI-feature.png385685Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2023-09-12 12:53:122023-09-13 16:00:10Researchers publish first-ever atlas of cancerous mutations in histones
The medical community has an opportunity to update its approach to newborn screening (NBS) to be prepared for emerging technological advancements that will help diagnose children with rare diseases from their first weeks of life, according to an editorial from a leading Children’s National Hospital researcher published in JAMA Pediatrics.
“In health care, we are seeing ways in which we can identify more children who have rare diseases even earlier, in the newborn period, rather than waiting for children to develop symptoms or experience irreversible changes,” said Beth Tarini, M.D., M.S., M.B.A., associate director of the Center for Translational Research. “We have continued innovations in screening technology – with more on the way – that can be added to the screening programs overseen by all 50 states. Updating how we approach newborn screening presents an incredible opportunity for doctors and their patient-families.”
Why it matters
Newborn screening happens before the baby leaves the hospital, generally with a prick of the heel to take a small sample of blood to look for several dozen rare, debilitating disorders such as sickle cell disease, congenital hypothyroidism and cystic fibrosis. The current screening system has grown successfully for roughly 60 years and creates a network of state programs. Along the way, researchers have had extensive debates about which disorders to include, based on whether there are treatments and options for patients.
Dr. Tarini, a pediatrician who has done extensive research on NBS and related policies, said that the existing screening programs across all 50 states should be modernized, with federal research support and funding, to create a unified “learning newborn screening system” that derives information from the 4 million babies born each year and provides feedback to the medical community about best practices for babies who are diagnosed with a rare disease or at risk for developing one.
“A new approach will require resources and infrastructure, but as the technology advances, we should change our system to leverage the experience of doctors, patients, and NBS programs across the country,” Dr. Tarini said. “We have the will, the experience and the ability to transform the care for children with rare disease.”
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.”
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Children with hypochondroplasia have low parent-reported quality of life (QOL) scores, according to findings from researchers at Children’s National Hospital.
Children with hypochondroplasia have low parent-reported quality of life (QOL) scores, according to findings from researchers at Children’s National Hospital. The data, presented as part of a poster presentation at the Pediatric Endocrine Society (PES) annual meeting, also found older age and shorter height may further exacerbate effects on QOL.
Hypochondroplasia is a skeletal dysplasia that has an estimated prevalence of 1 in 15,000-40,000 births and is characterized by short stature and disproportionately short arms, legs, hands and feet.
Participants of the study were 13 prepubertal boys ages 3-11 and 13 prepubertal girls ages 3-10, all with height z-scores < -2.25 SD and genetically proven hypochondroplasia.
Moving the field forward
Effective medications for growth in patients with hypochondroplasia are limited. Children’s National is participating in an ongoing study of a new drug, vosoritide, used to treat children in this population and will compare pre- and post-intervention QOL scores.
How will this work benefit patients?
Understanding QOL of children with hypochondroplasia will help clinicians provide better care and support.
“Knowing how a medication affects QOL will help guide counseling about use of this medication,” says Nicole Rangos, M.D., pediatric resident at Children’s National and lead author of the study.
Dr. Rangos received the Human Growth Foundation Award for best growth-related abstract at the PES annual meeting in May 2023. The award was established in 2007 to encourage fellows training in pediatric endocrinology to pursue clinical and bench investigations that may lead to a better understanding of human growth.
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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.
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A researcher at Children’s National Hospital identified a new genetic cause of overgrowth syndrome in Spindlin Family Member 4 (SPIN4), an epigenetic reader, in which a loss-of-function variant in SPIN4 causes a prenatal onset of extreme tall stature in a male individual, inherited in an X-linked semi-dominant fashion.
Overgrowth syndrome is a rare genetic childhood disorder commonly caused by pathogenic genetic variants in epigenetic writers, such as DNA or histone methyltransferases. A researcher at Children’s National Hospital identified a new genetic cause of overgrowth syndrome in Spindlin Family Member 4 (SPIN4), an epigenetic reader, in which a loss-of-function variant in SPIN4 causes a prenatal onset of extreme tall stature in a male individual, inherited in an X-linked semi-dominant fashion.
The study, published in JCI Insight, reported Spin4 knockout pre-clinical models recapitulating human phenotype and found evidence that SPIN4 normally binds specific modified histone peptides, promotes canonical WNT signaling and inhibits cell proliferation in vitro and that the identified frameshift variant lost all of these functions.
How does this work move the field forward?
“These findings prove that SPIN4 negatively regulates mammalian body growth, and loss of SPIN4 causes an overgrowth syndrome in humans and pre-clinical models, expanding our knowledge of the epigenetic regulation of human growth and development,” says Youn Hee Jee, M.D., endocrinologist at Children’s National and co-senior author of the study.
What did you find that excites you?
SPIN4 is the first epigenetic reader gene identified to cause overgrowth syndrome in humans.
“Understanding the full characteristics of the phenotype caused by SPIN4 variants will greatly advance our knowledge in epigenetic regulation of childhood growth and SPIN4-associated disorders,” Dr. Jee says.
How is Children’s National leading in this space?
Dr. Jee is leading a follow-up translational study to dissect the precise underlying pathobiology of overgrowth syndrome due to SPIN4 mutations. Using the knowledge, the ultimate goal of her work is to develop novel interventional approaches to treat childhood growth disorders.
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Children’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:
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In the largest sequencing study to date on testicular cancer, researchers at Children’s National Hospital have identified genes that contribute to testicular germ cell tumors (TGCT), the most common cancer among young, white men.
The findings, published in European Urology, provide direction for future screening and treatment of this disease, which can strike during the teen years and often runs in families. While treatable when identified early, testicular cancer leads to infertility, mental health issues and sometimes death, making its identification crucial for young adults.
“Testicular cancer is really a young person’s disease,” said Louisa Pyle, M.D., Ph.D. , a pediatrician, medical geneticist and research geneticist at the Children’s National Rare Disease Institute. “Most folks who have testicular cancer are between the ages of 15 and 45. Even though testicular cancer is relatively rare in the cancer world, it results in the greatest number of years lost among all adult cancers.”
What we hope to discover
Dr. Pyle led a research team that included experts at the National Cancer Institute and the University of Pennsylvania to study families with multiple members diagnosed with testicular cancer. They used whole exome sequencing to identify variants in many genes that predisposed patients to TGCT. Their work suggests that multiple variants – inherited together – increased the risk for the disease and provides potential routes for drugs that could be used for prevention and treatment.
“We found many genes that help us understand how testicular cancer happens,” Dr. Pyle said. “Our hope is that we can use that to try to come up with better treatments or better ways to preserve fertility for people with testicular cancer or gonadal differences.”
The patient benefit
Testicular cancer most often strikes men of European ancestry. It is also more common among intersex patients and those with differences in sex development, which is a clinical and research focus for Dr. Pyle. Medically, these are children who have a change in the biological characteristics of sex, including their chromosomes, hormones, gonads or physical body parts.
By studying a more common version of testicular cancer, the team learned about the underlying genetics in a way that will benefit intersex patients.
“One of the things we do in medicine is study a common version of the rare thing,” Dr. Pyle said. “Through this research, we learned that the same genes that cause intersex traits in some patients are also changed in subtle ways for people with testicular cancer. This is a way to study something that could improve care for those kids, by studying a group that has greater numbers.”
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The Children’s National Research Institute released its 
Advanced MRI visualization techniques to follow blood flow in the hearts of cardiac patients. Gene therapy for pediatric patients with Duchenne muscular dystrophy. 3D-printed casts for treating clubfoot. These were among the most popular articles we published on Innovation District in 2023. Read on for our full list.
Unraveling how cells mend after injury serves as a key to unlocking potential therapies. Recent findings from the 
Children’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.
