Diabetes & Endocrinology

Andrew Dauber, MD, MMSc, at work

Breaking barriers in growth disorder treatment for families

Andrew Dauber, MD, MMSc, at work

Children with hypochondroplasia were previously left with no options for effective long-term treatment, but Andrew Dauber, MD, MMSc, and his team continue to see promising results for treating children with hypochondroplasia using vosoritide.

Paving new roads for families at dead ends

For many children with short stature and other rare genetic growth disorders, there have been no next steps after usual treatment options prove ineffective. Researchers at Children’s National Hospital are digging deeper to find the root genetic causes of short stature disorders and creating novel, nuanced treatment options that have the opportunity to change how the field approaches these cases. From the creation of the growth specialty clinic to creating a study for one patient, the endocrinology team at Children’s National is focused on treating children with the uniqueness that their growth disorders require.

Hypochondroplasia

Many short stature disorders are caused by genetic variations that slow the growth of cells in the growth plate.

Children with hypochondroplasia were previously left with no options for effective long-term treatment, but Andrew Dauber, MD, MMSc, chief of Endocrinology at Children’s National, and his team continue to see promising results for treating children with hypochondroplasia using vosoritide. This drug had previously been approved for treatment of children with achondroplasia, the most common form of dwarfism. Treatment of hypochondroplasia has shown similar and, often, even better results. Study participants have managed the treatment well and have overall been very satisfied with the results.

Children’s National is the only site in the world offering this treatment to patients. The study includes over 50 children from two distinct subsets of patients — those with hypochondroplasia and those with other genetic short stature disorders such as RASopathy conditions, most common of which is Noonan syndrome, and children with mutations in the aggrecan and NPR2 genes. The study has found a significant increase in growth rates for children with hypochondroplasia who underwent treatment with vosoritide for one year.

“These are the first patients in the world to ever receive this medication for their conditions,” said Dr. Dauber. “The results are very promising and may change the way we practice medicine. Patients have come from all over the world to participate in the study.”

The preliminary data is even more promising for children in the study with other genetic conditions, which include defects that are more directly related to C-natriuretic peptide (CNP), which vosoritide targets directly. This is the first medication that directly targets the pathway in chondrocytes (cells in the growth plate that make the bones grow longer) affected by these specific mutations. Those patients are still undergoing their first full year of treatment and results of that section of the study are expected to be released next fall.

“We’re really starting to see this therapeutic landscape open up and develop for patients with this rare condition, for which right now there is no approved therapy, so really exciting times in this space,” says Dr. Dauber.

ACAN study

Dr. Dauber was a part of a study that was the first-of-its-kind to provide genetic testing for children with short stature and their families, finding ACAN gene mutations in multiple family members, and providing hormone therapy to the children impacted. The ability to diagnose this type of gene mutation allows families to be proactive with treatments — both as their child is growing and how other family members can reduce the risk of further complications down the road.

“We’re at the tip of the iceberg with research that explores this gene mutation,” says Dr. Dauber.

Study of one

This type of unique and cutting-edge research isn’t new to the endocrinology team at Children’s National, who is focused on creating unique interventions to find answers for patients and families. When a patient with short stature was found to have a unique mutation in his growth hormone receptor, Dr. Dauber and his team created a single patient trial with a precision medicine approach to overcome the patient’s growth hormone resistance. This isn’t the first time Dr. Dauber led a single patient study. Even when study populations are small, unlocking genetic answers and treatment options for even one patient is at the core of work being done at Children’s National. Dr. Dauber emphasized the importance of these findings for the medical community, particularly for those dedicated to pediatric endocrinology. He noted that understanding the nuanced responses among different children is crucial for optimizing future treatments.

What’s next

Even with improved height and growth outcomes, there is still more to uncover. In addition to the world’s first clinical trial using vosoritide in children for hypochondroplasia, Children’s National researchers are studying the quality of life for children with the disorder and how it may be affected by treatment, aiming to provide this full scope of care for children with these rare conditions. Dr. Dauber and his team continue to study connections between genetic biomarkers and response rates to clinical therapies, with hopes of discovering how these targeted approaches to treatment can be most effective. The work done by the team at Children’s National has shown results to warrant phase three of the trial.

“This ongoing commitment to innovative research underscores the relentless pursuit of targeted therapies, bridging gaps and bringing hope to families and patients worldwide,” says Dr. Dauber.

Dr. Dauber and patient

Innovative treatment for growth disorders

Dr. Dauber and patient

Andrew Dauber, M.D., M.M.Sc., chief of Endocrinology, with a patient.

Andrew Dauber, M.D., M.M.Sc., chief of Endocrinology, leads a program that brings together comprehensive resources for children with rare genetic growth disorders, including basic science, translational and clinical research.

“Discovery is important, and research gives us many answers,” he says. “But what we do with those answers is what really matters. There’s nothing better than seeing the impact our research is having on an individual patient. It is so gratifying to hear from parents about how their kids are making progress thanks to a protocol we developed.”

Mia thrives with the right approach

Middle schooler Mia loves to dance, practice gymnastics and hang out with friends. She was born in Croatia with hypochondroplasia, a genetic disorder that slows cell growth and causes short stature and limb shortening.

Mia practices her dance moves.

Mia practices her dance moves.

She struggled in kindergarten because she was so small. “Kids can be very mean if you’re different,” says Mia’s dad, Ivan. “For years, we took Mia to different specialists in Europe without getting the help she needed. I researched endocrinologists all over the world. They all pointed us to the United States.” This led Ivan to Children’s National and Dr. Dauber.

Dr. Dauber invited the family to the U.S. to participate in a clinical trial that was to start very soon. “I knew this was our only chance,” said Ivan, who rushed to bring his family to Washington, D.C., for the initial screening appointments. They later returned for more measurements, Mia’s first dose of medicine and a three-month supply to go. The family returns to Children’s National every six months.

In Mia’s first year, she grew more than 3 inches. Her arms also grew longer. “Dr. Dauber is probably the best doctor in the world,” Ivan says. “He is like a friend to Mia and has helped us make sure she has as normal a life as possible. This growth, including in her confidence, has been life-changing for her.” The family relocated to the U.S., and Mia will continue in the trial until she reaches puberty.

“Now, the difference between Mia and other kids is much less,” Ivan says. “She makes new friends more easily and is a happy, happy kid. As for me, I want to cry for how happy I am. Dr. Dauber and Children’s National made it all possible.”

collage of news logos

Children’s National in the News: 2024

collage of news logosIn 2024, Children’s National Hospital continued to make remarkable strides across diverse areas of pediatric medicine, from groundbreaking technological innovations to critical health advocacy. The following compilation showcases ten significant stories that demonstrate the breadth and depth of the hospital’s impact, as featured in major national news outlets including NBC Nightly News, CNN, The Washington Post, The New York Times, NPR, The Today Show, Healio, and POLITICO. Delve into our 2024 news highlights for more.

1. World’s smallest pacemaker gives new hope to babies with heart defects

Charles Berul, M.D., and a patient family talk about the pill-sized pacemaker that saved the life of Abby, an infant born with deadly heart defects. (NBC Nightly News)

2. ‘A $10 death trip’: Fentanyl is killing teens. Meet one fighting for his life

Sivabalaji Kaliamurthy, M.D., addiction psychiatrist and director of the Addictions Program, spoke to CNN about the impact of drug addiction on teen health and the lack of resources available to treat opioid use disorder. (CNN)

3. Health panel urges interventions for children and teens with high BMI

Susma Vaidya, M.D., M.P.H., associate medical director of the IDEAL Clinic, shared her concerns about childhood obesity treatment recommendations issued today by a leading panel of independent U.S. health experts. (The Washington Post)

4. An Rx for food? Doctor’s offices offer groceries to those in need

Shideh Majidi, M.D., M.S.C.S., and Emily Frymark, clinical dietitian, spoke about how the food pharmacy, created in partnership with the Capital Area Food Bank, benefits patients with diabetes and other chronic conditions. (The Washington Post)

5. First patient begins newly approved sickle cell gene therapy

Kendric Cromer, a 12-year-old boy being treated at Children’s National Hospital, became the first person in the world with sickle cell disease to begin a commercially approved gene therapy that may cure the condition. “This is a big effort,” says David Jacobsohn, M.D., ScM, M.B.A. (The New York Times)

6. ‘We created this problem’: A pediatric surgeon on how gun violence affects children

Mikael Petrosyan, M.D., associate chief of General and Thoracic Surgery, discusses the stress medical staff face when treating young victims of gun violence. (NPR)

7. 7th grade boy rings bell after final round of chemotherapy

Landon, an 11-year-old patient, rang the bell at Children’s National Hospital with family, friends, doctors and nurses cheering after finishing his final round of chemotherapy. (The Today Show)

8. Study: One in three adolescents experience ‘period poverty’

Monika Goyal, M.D., M.S.C.E., pediatric emergency medicine specialist and co-director of the Center for Translational Research, emphasized the need for awareness in addressing period poverty in teenagers and young adults. (Healio)

9. The AI assurance labs are coming

Kolaleh Eskandanian, Ph.D., M.B.A., P.M.P., vice president and chief innovation officer, participates in a panel discussion covering AI data collection, associated risks, reliance and other topics related to artificial intelligence. (POLITICO)

10. First day of a ‘new life’ for a boy with sickle cell

Children’s National patient Kendric Cromer, 12, became one of the first children ever to be treated with a newly approved gene therapy that will free him from the sickle cell disease that has stolen his childhood. (The New York Times)

the 8th Annual 2024 T1DX-QI logo

Children’s National shares insights at 2024 T1DX-QI Learning Session

the 8th Annual 2024 T1DX-QI logoExperts from Children’s National Hospital presented research at the 8th Annual 2024 T1DX-QI (Type 1 Diabetes Exchange Quality Improvement Collaborative) Learning Session held in Chicago, Ill. This session emphasizes delivering equitable, evidence-based and cost-effective diabetes care through integrating clinical science, quality improvement, technology and advocacy.

Oral Presentations:

  • Assessing Readiness to Transition to Adult Care among Young Adults with T1D by Jody Grundman, M.D.
  • Improving Microalbuminuria Screening Rates Among Pediatric Diabetes Patients: A Clinic-Wide Initiative by Sarah Lydia Holly, BSN, RN.
  • Addressing Disparities in Diabetes Care: Implementing SDOH Screening at Diagnosis by Sarah Lydia Holly, BSN, RN.
  • Developing a Tracking Tool for Insulin Pump Prescriptions Among Children and Adolescents with Type 1 & Type 2 Diabetes by Amanda Perkins, N.P., C.P.N.P., M.P.H.

Learn more about these presentations here.

2024 with a lightbulb instead of a zero

The best of 2024 from Innovation District

2024 with a lightbulb instead of a zero2024 marked another groundbreaking year for Children’s National Hospital, showcasing remarkable advances across the spectrum of pediatric medicine, research and healthcare innovation. From pioneering surgical procedures to breakthrough artificial intelligence applications, the institution continued to push the boundaries of what’s possible in children’s healthcare. Read on for our list of the most popular articles we published on Innovation District in 2024.

1. Prenatal COVID exposure associated with changes in newborn brain

A study led by researchers at Children’s National Hospital showed that babies born during the COVID-19 pandemic have differences in the size of certain structures in the brain, compared to infants born before the pandemic. The findings suggest that exposure to the coronavirus and being pregnant during the pandemic could play a role in shaping infant brain development.
(3 min. read)

2. Children’s National Hospital again ranked among the best in the nation by U.S. News & World Report

Children’s National Hospital was ranked as a top hospital in the nation by the U.S. News & World Report 2024-25 Best Children’s Hospitals annual rankings. This marks the eighth 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.
(2 min. read)

3. Children’s National performs first ever HIFU procedure on patient with cerebral palsy

In January 2023, a team of multidisciplinary doctors performed the first case in the world of using bilateral high intensity focused ultrasound (HIFU) pallidotomy on Jesus, a 22-year-old patient with dyskinetic cerebral palsy. The procedure is part of a clinical trial led by Chima Oluigbo, M.D., pediatric neurosurgeon at Children’s National Hospital.
(3 min. read)

4. Novel ultrasound device gets FDA breakthrough designation with Children’s National support

A novel ultrasound device developed by Bloom Standard received the Food and Drug Administration’s valued breakthrough device designation with the help of Children’s National Hospital. The device that enables autonomous, hands-free ultrasound scans to be performed anywhere, by any user.
(2 min. read)

5. First-of-its-kind pilot study on the impacts of Lyme disease in pregnancy and infant development

Understanding the effects of Lyme disease on the developing fetal brain is essential to ensure timely prenatal and postnatal treatments to protect the fetus and newborn. In response to this need, Children’s National Hospital is leading a pilot study to establish the groundwork needed for a larger study to determine the effect of in utero exposure to Lyme disease on pregnancy and early childhood neurodevelopmental outcomes.
(3 min. read)

6. Earliest hybrid HLHS heart surgery kids thrive 5 years later

Five years ago, Cayden was born 6 weeks early weighing less than four pounds and at risk of dying from her critical congenital heart disease. Today, she’s a happy five-year-old. Early diagnosis of her hypoplastic right ventricle, double inlet left ventricle and critical coarctation of the aorta allowed for the team at Children’s National Hospital to create a careful plan for safe delivery and to offer an innovative hybrid HLHS surgical approach at the hospital within 24 hours after she was born.
(1 min. read)

7. Wayne J. Franklin, M.D., F.A.C.C., named senior vice president of the Children’s National Heart Center

Children’s National Hospital appointed Wayne J. Franklin, M.D., F.A.C.C., as the new senior vice president (SVP) of the Children’s National Heart Center. In this role, Dr. Franklin oversees the full spectrum of heart care services including cardiac imaging and diagnostics, interventional cardiology, electrophysiology, cardiac anesthesia, cardiac surgery and cardiac intensive care.
(2 min. read)

8. Artificial – and accelerated – intelligence: endless applications to expand health equity

By pioneering artificial intelligence (AI) innovation programs at Children’s National Hospital, Marius George Linguraru, D.Phil., M.A., M.Sc., and the AI experts he leads are ensuring patients and families benefit from a coming wave of technological advances. The team is teaching AI to interpret complex data that could otherwise overwhelm clinicians.
(4 min. read)

9. Evidence review: Maternal mental conditions drive climbing death rate in U.S.

Painting a sobering picture, a research team led by Children’s National Hospital culled years of data demonstrating that maternal mental illness is an under-recognized contributor to the death of new mothers. They called for urgent action to address this public health crisis.
(3 min. read)

10. Nathan Kuppermann, M.D., M.P.H., named chief academic officer and chair of Pediatrics

Children’s National Hospital appointed Nathan Kuppermann, M.D., M.P.H., as its new executive vice president, chief academic officer and chair of Pediatrics. In this role, Dr. Kuppermann oversees research, education and innovation for the Children’s National Research Institute as well as academic and administrative leadership in the Department of Pediatrics at George Washington University School of Medicine & Health Services.
(2 min. read)

11. First global clinical trial achieves promising results for hypochondroplasia

Researchers from Children’s National Hospital presented findings from the first clinical trial of the medication vosoritide for children with hypochondroplasia – a rare genetic growth disorder. During the phase 2 trial, researchers found vosoritide increased the growth rate in children with hypochondroplasia, allowing them to grow on average an extra 1.8 cm per year.
(2 min. read)

12. Pioneering research center aims to revolutionize prenatal and neonatal health

Since its establishment in July 2023, the Center for Prenatal, Neonatal & Maternal Health Research at Children’s National Hospital has gained recognition through high-impact scientific publications, featuring noteworthy studies exploring the early phases of human development.
(3 min. read)

ISPAD logo

Children’s National researchers joined ISPAD’s 50th anniversary conference

ISPAD logoResearchers from Children’s National Hospital participated in the 50th anniversary conference of the International Society for Pediatric and Adolescent Diabetes (ISPAD) in Lisbon, Portugal. As the only global organization dedicated to all forms of childhood diabetes, ISPAD promotes clinical and basic science, research, education and advocacy for children and adolescents with diabetes. The conference provided members worldwide with a platform to exchange scientific and clinical insights on pediatric and adolescent diabetes.

Poster presentations:

The participation of Children’s National researchers highlights their commitment to advancing diabetes care and research for children and adolescents. By collaborating with global experts, they continue to contribute collective efforts to improve outcomes for young people living with diabetes worldwide.

Learn more about these presentations here.

test tubes filled with blood and serum

Pharmacokinetic and pharmacodynamic analysis of vosoritide in Phase 2 trial

test tubes filled with blood and serum

The research, published in Hormone Research in Paediatrics, examined whether pharmacokinetic (PK) factors or other blood biomarkers correlated with the response to treatment of vosoritide in children with hypochondroplasia.

Researchers from Children’s National Hospital presented new data from the world’s first clinical trial of vosoritide use for growth disorders at the European Society for Pediatric Endocrinology annual meeting. The research, published in Hormone Research in Paediatrics, examined whether pharmacokinetic (PK) factors or other blood biomarkers correlated with the response to treatment of vosoritide in children with hypochondroplasia. The study found that drug exposure ­­— as measured by average PK area under the curve (AUC) — did not correlate with any growth outcome.

The big picture

Previously published results of the clinical trial of vosoritide in children with hypochondroplasia showed that vosoritide can help kids with hypochondroplasia grow better. For this study, the researchers analyzed PK parameters by non-compartmental methods. Pharmacodynamic markers were measured at day 1, the 6-month and 12-month visits. The PK analysis indicates that drug exposure was correlated to global C-type natriuretic peptide (CNP) activity as measured by urine cyclic guanosine monophosphate (cGMP) concentrations.

Moving the field forward

There are currently no approved therapies for hypochondroplasia. Children’s National is the first site in the world to conduct a trial of a targeted treatment for hypochondroplasia and this is the first study to report PKs of vosoritide in children with hypochondroplasia.

“The results of our study showed that the drug levels achieved are similar to what was achieved in patients with achondroplasia,” says Andrew Dauber, M.D., M.M.Sc., chief of Endocrinology at Children’s National and one of the study authors. “This suggests that the dose we used is a reasonable one, paving the way for a Phase 3 trial of vosoritide in children with hypochondroplasia.”

What’s next

Dr. Dauber emphasized the importance of these findings for the medical community, particularly for those dedicated to pediatric endocrinology. He noted that understanding the nuanced responses among different children is crucial for optimizing future treatments.

“This ongoing commitment to innovative research underscores the relentless pursuit of targeted therapies, bridging gaps and bringing hope to families and patients worldwide,” says Dr. Dauber.

Read the study in Hormone Research in Paediatrics: Phase 2 Trial of Vosoritide Use in patients with Hypochondroplasia: Pharmacokinetic/ Pharmacodynamic analysis from 12 Month Data

photograph of a pile of insulin pumps

CME Webinar: Delaying Type 1 Diabetes: Early Antibody Screening and Use of Teplizumab in Children

In this webinar, Shideh Majidi, M.D., M.S.C.S., director of the Childhood and Adolescent Diabetes Program at Children’s National Hospital, discussed early antibody screening and use of teplizumab in children.

Key takeaways

  • Current state of type 1 diabetes: Type 1 Diabetes (T1D) is characterized by absolute insulin deficiency due to pancreatic beta-cell destruction, often diagnosed in childhood but can occur in adults as well. It requires lifelong insulin management.
  • Increased risk and screening: Individuals with family members who have T1D are at higher risk of developing T1D, but most newly diagnosed cases have no family history. Early screening can help reduce diabetic ketoacidosis (DKA) rates and improve management.
  • Stages of type 1 diabetes: T1D is classified into three stages: Stage 1 (normal blood sugars with 2 or more autoantibodies), Stage 2 (dysglycemia with 2 or more autoantibodies), and Stage 3 (clinical T1D requiring insulin).
  • Early screening and follow-up: Screening for diabetes autoantibodies can be done through various programs and labs. Follow-up involves regular monitoring based on the number of antibodies and blood sugar levels. If patients have antibodies or abnormal blood sugars, they can be referred to the T1Delay Program at Children’s National (through an endocrine/diabetes referral).
  • Teplizumab (T-zield) treatment: T-zield is an FDA-approved treatment for delaying the onset of Stage 3 T1D in individuals aged 8 and older with Stage 2 T1D. It involves a 14-day infusion regimen and has been shown to delay insulin need by a median of 2 years.
  • Clinical implementation and support: Children’s National offers T-zield treatment through a multi-departmental effort. The program aims to improve both quality of life and clinical outcomes for patients.

More information

  • For more information on this webinar, as well as access to the presentation slide deck, visit our website.
  • To register for future CME opportunities or view past presentations, visit childrensnational.org/Webinars.
2024-25 US News Badges

Children’s National again ranked among the best in the nation by U.S. News & World Report

2024-25 US News BadgesChildren’s National Hospital in Washington, D.C., was ranked as a top hospital in the nation by the U.S. News & World Report 2024-25 Best Children’s Hospitals annual rankings. This marks the eighth 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.

This year, U.S. News ended ordinal rankings on its Honor Roll. Instead of assigning a numerical rank from 1 to 10, all hospitals on the Honor Roll will be recognized as having attained the highest standards of care in the nation.

In addition, Children’s National tied for #1 pediatric hospital in the Mid-Atlantic region, which includes New York, New Jersey, Delaware, Pennsylvania, the District of Columbia, West Virginia and Virginia. It’s also best in the Mid-Atlantic in Neonatology.

For the fourteenth straight year, Children’s National ranked in 10 specialty services. New this year, U.S. News included behavioral health as a service line in the rankings. Since it’s the first year, there are no ordinal rankings for behavioral health, but the Children’s National program was named one of the top 50 programs in the country.

“In my first year here, I witnessed what makes Children’s National so special — our commitment to collaboration, empowering one another, and charting a bold path forward for pediatric care,” said Michelle Riley-Brown, MHA, FACHE, president and chief executive officer of Children’s National. “I’m proud U.S. News again recognized Children’s National as one of the top in the nation and the highest-ranked pediatric hospital in D.C., Maryland and Virginia. Together, we’ll continue to push the boundaries of care, research and innovation to make a difference for those who matter most — the kids.”

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 nearly two decades, U.S. News has published Best Children’s Hospitals to empower the parents and caregivers of children with complex medical needs,” said Ben Harder, chief of health analysis and managing editor at U.S. News. “Children’s hospitals appearing on the U.S. News Honor Roll have a track record of delivering unparalleled 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 Children’s National specialty services that U.S. News ranked in the top 10 nationally are:

The other four specialties ranked among the top 50 are Behavioral Health, Cardiology and Heart Surgery, Pulmonology and Lung Surgery, and Urology.

teens hiking in the woods

Mindfulness-based interventions boost teens with Type 1 diabetes

teens hiking in the woodsA team of experts at Children’s National Hospital, using the input of teens with Type 1 diabetes from our Children’s National clinics, adapted a six-week virtual group diabetes education program and mindfulness-based intervention. In their new study published in Journal of Pediatric Psychology, the team described how the intervention might work to support teens with Type 1 diabetes experiencing anxiety or depression.

The findings showed that both the mindfulness-based intervention and the diabetes education program were successfully implemented and valued by the participating teens. While the study was limited in scope, focusing primarily on assessing the programs’ acceptance and perceived value among adolescents, preliminary results suggest participation in the programs may also contribute to improvements in mood, diabetes-related distress and glycemic control.

Molly Basch, Ph.D., and Eleanor Mackey, Ph.D., both psychologists and authors of the study, shared more about their learnings.

Q: What’s been the hold-up in the field?

A: Many adolescents with Type 1 diabetes experience symptoms of anxiety and depression, yet it can be hard to access care to relieve some of these symptoms. Group-based, brief virtual care may be a way to provide more access to necessary support. Testing whether such programs are desired and useful by teens and their families, and whether they show promise for improving symptoms of depression and anxiety, is an important step in addressing this gap in care.

Q: How does this work move the field forward?

A: This study helped us to use the input of the teens we hope to serve to create and adapt programs that they were enthusiastic about and test them to see if they were helpful. We used these findings to obtain a second grant from the National Institutes of Health to do a larger scale study to see whether these programs help with depression, anxiety, eating, stress and diabetes management.

Q: What’s the goal and how will this work benefit patients?

A: Our ultimate goal is to create easy to access programs which help improve anxiety, depression and diabetes management in teens with Type 1 diabetes. We are trying to ensure that these programs are feasible and accessible and could be translated into our clinics if they prove to be beneficial. We hope to improve the ways we identify teens experiencing anxiety and depression and provide them the option for this brief group-based care in our clinics.

Q: What did you find that excites you and what’s next?

A: We were very excited to find that teens were interested in enrolling in these programs and found them useful. We were also excited to see that our very preliminary data indicates that mindfulness-based interventions may improve depression and even possibly glycemic control.

Children’s National is the first institution that we know of to use teen feedback to adapt a mindfulness-based intervention specific to teens with Type 1 diabetes. Our team is now preparing to embark on a five-year project in collaboration with the Barbara Davis Center in Colorado to evaluate the effectiveness of these programs with a larger group of teens.

Additional authors from Children’s National include: Katherine Patterson Kelly, Ph.D., R.N.; Randi Streisand, Professor, Ph.D., CDCES; and Jack Vagadori.

American Diabetes Association 84th Scientific Sessions logo

Children’s National at ADA 84th Scientific Sessions

American Diabetes Association 84th Scientific Sessions logoThe American Diabetes Association 84th Scientific Sessions were held in Orlando, Florida. The meeting presented an opportunity for researchers and health care professionals to exchange knowledge on the latest scientific advances and breakthroughs in diabetes. Participants included:

Oral Presentations:

Poster Presentations:

model of human growth hormone

Promising results after precision medicine trial for growth hormone resistance

model of human growth hormone

A patient with short stature and growth hormone (GH) resistance experienced a growth rate increase of 3.4 cm/year after 12 months of high-dose GH therapy.

In a first-of-its-kind single-patient clinical trial, a patient with short stature and growth hormone (GH) resistance experienced a growth rate increase of 3.4 cm/year after 12 months of high-dose GH therapy as part of a precision medicine approach. The study, led by Andrew Dauber, M.D., M.M.Sc., chief of Endocrinology at Children’s National Hospital, was published in The Journal of Clinical Endocrinology & Metabolism.

What this means

“Many patients with short stature do not get a definitive genetic diagnosis, and even if they do, it takes substantial effort to design a targeted therapeutic trial,” says Dr. Dauber.

This is the first trial of extremely high-dose growth hormone in a single patient with a unique form of growth hormone resistance.

Children’s National leads the way

During an endocrine evaluation for short stature, which included GH stimulation testing demonstrating growth hormone resistance, a next-generation sequencing panel revealed that the patient had an inherited heterozygous frameshift variant in the growth hormone receptor gene (GHR).

The researchers found that the patient’s growth hormone binding protein (GHBP) levels were elevated because of this variant, limiting circulating GH’s ability to bind to the GH receptor. The researchers believed that, with extremely high doses of GH, the mechanism of resistance would be overcome and normal GH signaling would be restored.

“We found that we were able to overcome the patient’s growth hormone resistance, which resulted in substantially improved growth,” says Dr. Dauber. “Our understanding of the underlying pathophysiology of his growth disorder led to our ability to design a precision medicine trial just for this single patient.”

Genetic testing and translational biology can provide insights into the specific underlying mechanism of rare growth disorders, allowing for precision medicine approaches.

Dr. Andrew Dauber measures Mia's height

First global clinical trial achieves promising results for hypochondroplasia

Dr. Andrew Dauber measures Mia's height

Trial participant Mia Maric is measured by Dr. Andrew Dauber.

Researchers from Children’s National Hospital presented findings from the first clinical trial of the medication vosoritide for children with hypochondroplasia – a rare genetic growth disorder. The results were presented at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

The big picture

Recently approved to increase linear growth and open growth plates in children with achondroplasia, vosoritide is a C-type natriuretic peptide analog that binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation by inhibiting the ERK1/2-MAPK pathway.

“Vosoritide directly targets the pathway in the growth plate that is affected by the genetic mutation causing hypochondroplasia,” said Andrew Dauber M.D., M.M.Sc., chief of Endocrinology at Children’s National and lead author of the study.

During the phase 2 trial, researchers found vosoritide increased the growth rate in children with hypochondroplasia, allowing them to grow on average an extra 1.8 cm per year.

The patient benefit

Ivan Maric’s 11-year-old daughter, Mia, has been participating in the trial for the last 18 months. In 2022, they moved from Croatia to be part of the study.

“This has been life-changing for Mia,” Maric said. “Soon after receiving the initial doses, we immediately noticed growth. Now, she can independently manage everyday tasks such as washing her hair and reaching the sink to wash her hands.”

What’s next

Vosoritide treatment may work as a precision therapy to improve growth in multiple genetic conditions that interact with the ERK1/2-MAPK pathway.

“This study provides a proof of principle that this medicine will work for these children and supports further research in this area,” said Dr. Dauber. “I was excited to see how well tolerated the medication was and how some patients had excellent responses.”

This clinical trial funded by BioMarin is the first-of-its-kind to treat children with genetic short stature who do not have achondroplasia. Other growth-related conditions included in this phase 2 trial were Noonan syndrome, NPR2 mutations and Aggrecan mutations.

Additional authors from Children’s National: Anqing Zhang, Ph.D., Roopa Kanakatti Shankar, M.D., Kimberly Boucher, R.N., Tara McCarthy, B.A., Niusha Shafaei, B.A., Raheem Seaforth, B.A., Meryll Grace Castro, M.S., and Niti Dham, M.D.

mother hugging daughter

In the News: Earlier signs of puberty and the challenges faced

mother hugging daughter

“In many circumstances, access to care for precocious puberty has the same issue that we have with access to healthcare in general. Many of these children may not get care in a timely manner.”

Roopa Kanakatti Shankar, M.D., M.S., pediatric endocrinologist, spoke to NBC News about the uptick in early puberty and the importance of access to care for those who need treatment. Read her interview with NBC News.

A bag of food from the food pharmacy

Optimizing pediatric diabetes management: Integrating a vital food pharmacy approach

A bag of food from the food pharmacy

Weighing approximately 50 pounds, the food packages are rich in protein, fiber and healthy fats, and include fruits and vegetables.

Social Determinants of Health are an essential focus in providing equitable diabetes care. Food and nutrition are integral parts of Type 1 diabetes (T1D) and Type 2 diabetes (T2D) management. Food insecurity increases the risk for T2D and is associated with higher A1C levels and hospitalization in those with diabetes.

The big picture

A study published in the American Diabetes Association Journal Diabetes assessed food insecurity among families with diabetes during their clinical visits. As of June 2023, 62% of the participants screened positive for food insecurity. In response, Children’s National Hospital partnered with the Capital Area Food Bank to create a food pharmacy within the diabetes clinic that supplies an average of 117 families per month with additional groceries to support those affected by diabetes.

What does this mean?

These packages are designed to sustain a family of four for three days. Weighing approximately 50 pounds, pantry essentials are rich in protein, fiber and healthy fats, and include fruits and vegetables. Additionally, the packages come with recipe cards that offer helpful suggestions for replacing or supplementing items, enabling individuals to obtain nutritious food beyond their diabetes appointments.

“We hope that these findings and future research will help bring to light the importance of food security, in addition to medication, in managing chronic illness,” said Alexis Richardson, M.S., R.D., L.D.N., C.D.C.E.S., food pharmacy founder and diabetes educator at Children’s National. “This research also opens up the possibilities for other studies on the effect food insecurity and Type 2 diabetes.”

What’s been the hold-up in the field?

Providing 50 pounds per set to over 100 families each month requires a substantial area for a food pharmacy. The storage facility must adhere to food safety standards and comply with Department of Health regulations. Additionally, all staff members are required to be ServSafe certified. Shortages in staffing and funding pose significant challenges. Clear procedures are needed for tasks such as placing orders, receiving food deliveries, managing loading docks and handling the refrigeration and shelving of bags.

Over the years, Children’s National has engaged with numerous programs, sharing their experiences and challenges to offer guidance and assist other institutions in establishing their own food pharmacies.

iLet Bionic Pancreas

Empowering Type 1 diabetes management with new technology

iLet Bionic Pancreas

The iLet Bionic Pancreas was recently cleared by the U.S. Food and Drug Administration (FDA) and is now commercially available.

In 2021, Children’s National Hospital participated in a multi-center clinical trial to test the efficacy of the iLet Bionic Pancreas — a device that automatically regulates blood sugar levels in patients with Type 1 diabetes. The iLet Bionic Pancreas was recently cleared by the U.S. Food and Drug Administration (FDA) and is now commercially available.

“The bionic pancreas serves as an additional resource empowering patients to effectively manage their Type 1 diabetes with confidence,” says Fran Cogen, M.D., CDCES, director emerita of the Childhood and Adolescent Diabetes Program at Children’s National. “It requires minimal input from the patient.”

During initialization of the pump, patients will no longer need to enter carbohydrate amounts, just their weight. After the patient indicates whether they are having a usual meal, smaller than usual meal, or larger than usual meal, the device’s algorithms will adjust insulin doses automatically.

“Patients will not need to add correction insulin,” says Dr. Cogen. “There are 3 algorithms – one to adjust background insulin, one to adjust insulin needed to cover carbohydrates and one to adjust insulin needed to correct high blood sugars. The background insulin dosing will also be adjusted if the blood sugars decrease or become low.”

The FDA approved the iLet Bionic Pancreas for patients 6 years and older with Type 1 diabetes. Users will be required to pair the pump with a continuous glucose monitor as the pump is dependent on the monitor’s information. The results of the trial, primarily funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health, were published in the New England Journal of Medicine.

collage of news outlet logos

Children’s National in the News: 2023

collage of news outlet logos
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.

1. COVID during pregnancy dramatically increases the risk of complications and maternal death, large new study finds

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)

2. Rest isn’t necessarily best for concussion recovery in children, study says

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)

3. Pediatric hospital beds are in high demand for ailing children. Here’s why

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)

4. Anisha Abraham details impact of social media use on children: ‘True mental health crisis’

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)

5. Saving Antonio: Can a renowned hospital keep a boy from being shot again?

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)

6. Formerly conjoined twins reunite with doctors who separated them

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)

7. Asthma mortality rates differ by location, race/ethnicity, age

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)

8. How one Afghan family made the perilous journey across the U.S.-Mexico border

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)

9. When a child is shot, doctors must heal more than just bullet holes

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)

10. This 6-year-old is a pioneer in the quest to treat a deadly brain tumor

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)

11. F.D.A. approves sickle cell treatments, including one that uses CRISPR

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)

12. 6-year-old fulfils wish to dance in the Nutcracker

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)

2023 with a lightbulb

The best of 2023 from Innovation District

2023 with a lightbulbAdvanced 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.

1. Advanced MRI hopes to improve outcomes for Fontan cardiac patients

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)

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

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)

3. New model to treat Becker Muscular Dystrophy

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)

4. First infants in the U.S. with specially modified pacemakers show excellent early outcomes

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)

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

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)

6. AAP names Children’s National gun violence study one of the most influential articles ever published

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)

7. Why a colorectal transition program matters

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)

8. First-of-its-kind holistic program for managing pain in sickle cell disease

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)

9. Recommendations for management of positive monosomy X on cell-free DNA screening

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)

10. Innovation in clubfoot management using 3D anatomical mapping

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)

11. Gender Self-Report seeks to capture the gender spectrum for broad research applications

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)

12. Cardiovascular and bone diseases in chronic kidney disease

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)

Youn Hee Jee

Shaping the future of pediatric endocrinology

Youn Hee Jee

“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.

What’s unique

Leveraging the expertise of Medical Geneticists Natasha Shur, M.D., and Deepika Burkardt, D.O., from the Children’s National Rare Disease Institute – the largest clinical genetics program in the United States – the growth clinic taps into substantial knowledge in the genetics of growth.

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.

Read more about our advances in Diabetes & Endocrinology.

ARPA-H logo

Children’s National selected as member of ARPA-H Investor Catalyst Hub spoke network

ARPA-H logoThe hospital will advocate for the unique needs of children as part of nationwide network working to accelerate transformative health solutions.

Children’s National Hospital was selected as a spoke for the Investor Catalyst Hub, a regional hub of ARPANET-H, a nationwide health innovation network launched by the Advanced Research Projects Agency for Health (ARPA-H).

The Investor Catalyst Hub seeks to accelerate the commercialization of groundbreaking and accessible biomedical solutions. It uses an innovative hub-and-spoke model designed to reach a wide range of nonprofit organizations and Minority-Serving Institutions, with the aim of delivering scalable healthcare outcomes for all Americans.

“The needs of children often differ significantly from those of adults. This partnership reflects our commitment to advancing pediatric healthcare through innovation and making sure we’re addressing those needs effectively,” said Kolaleh Eskandanian, Ph.D., M.B.A., vice president and chief innovation officer at Children’s National. “Leveraging the strength of this hub-and-spoke model, we anticipate delivering transformative solutions to enhance the health and well-being of the patients and families we serve.”

Children’s National joins a dynamic nationwide network of organizations aligned to ARPA-H’s overarching mission to improve health outcomes through the following research focus areas: health science futures, proactive health, scalable solutions and resilient systems. Investor Catalyst Hub spokes represent a broad spectrum of expertise, geographic diversity and community perspectives.

“Our spoke network embodies a rich and representative range of perspectives and expertise,” said Mark Marino, vice president of Growth Strategy and Development for VentureWell and project director for the Investor Catalyst Hub. “Our spokes comprise a richly diverse network that will be instrumental in ensuring that equitable health solutions reach communities across every state and tribal nation.”

As an Investor Catalyst Hub spoke, Children’s National gains access to potential funding and flexible contracting for faster award execution compared to traditional government contracts. Spoke membership also offers opportunities to provide input on ARPA-H challenge areas and priorities, along with access to valuable networking opportunities and a robust resource library.