Diabetes & Endocrinology

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.

Patient and doctor demoing Rare-CAP technology

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

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

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

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

The big picture

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

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

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

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

The patient benefit

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

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

AAP conference logo

Children’s National Hospital at the 2023 American Academy of Pediatrics meeting

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.

 

Date Time Presenter Title Division
10/20/2023 8:30 AM Vanessa Madrigal, M.D., M.S.C.E. Section on Cardiology & Cardiac Surgery Program: Day 1 Critical Care
10/20/2023 2:30 PM Kibileri Williams, M.B.B.S Appy Hour: a Current Update on Pediatric Appendicitis Surgery
10/20/2023 3:30 PM Roopa Kanakatti Shankar, M.D., M.S. Precocious Puberty: Puberty Suppression or Not? Endocrinology
10/21/2023 7:30 AM Allison Markowsky, M.D. What is Trending in the Newborn Nursery: Controversies and Evidence Hospital Medicine
10/21/2023 8:00 AM Jessica Herstek, M.D. Joint Program: Council on Clinical Information Technology and Council on Quality Improvement and Patient Safety Medical Informatics
10/21/2023 8:00 AM Nazrat Mirza, M.D., Sc.D. Section on Obesity Program IDEAL Clinic (Obesity Program)
10/21/2023 8:00 AM Hans Pohl, M.D. Section on Urology Program: Day 2 Urology
10/21/2023 9:00 AM Anil Darbari, M.D., M.B.B.S., M.B.A. Constipation: Getting it to Work Out in the End Gastroenterology, Hepatology and Nutrition
10/21/2023 9:00 AM Kibileri Williams, M.B.B.S Appy Hour: a Current Update on Pediatric Appendicitis Surgery
10/21/2023 1:30 PM Olanrewaju (Lanre) Falusi, M.D. Educational Program and Annual Assembly for Medical Students, Residents, and Fellowship Trainees Pediatrician
10/21/2023 2:00 PM Brian Reilly, M.D. Noise 201 – More than Headphones! Otolaryngology
10/21/2023 2:00 PM Erin Teeple, M.D. Hernias, Hydroceles, and Undescended Testicles: When to Wait and When to Operate Surgeon
10/21/2023 3:30 PM Amanda Stewart, M.D. Section on Emergency Medicine Program: Day 2 Emergency Medicine
10/21/2023 3:30 PM Shideh Majidi, M.D., M.S.C.S. Healthcare Disparities in Management of Type 1 Diabetes and Diabetes Technology Endocrinology
10/21/2023 3:30 PM Natasha Shur, M.D. Genetic Testing Boot Camp Geneticist (RDI)
10/21/2023 5:00 PM Danielle Dooley, M.D., M.Phil Connecting School Systems and Health Systems: Successes and Opportunities Pediatrician
10/22/2023 8:00 AM Jaytoya Manget, DNP, FNP Pediatricians and School Attendance: Innovative Approaches to Prevent Chronic Absenteeism
10/22/2023 8:00 AM Simone Lawson, M.D. Section on Emergency Medicine Program: Day 3 Emergency Medicine
10/22/2023 8:00 AM Hans Pohl, M.D. Section on Urology Program: Day 3 Urology
10/22/2023 1:00 PM Lenore Jarvis, M.D., M.Ed. Section on Early Career Physicians Program
10/22/2023 5:00 PM Brian Reilly, M.D. Pediatric Hearing Loss: What’s New in Diagnostics, Prevention and Treatments Otolaryngology
10/23/2023 8:00 AM Rosemary Thomas-Mohtat, M.D. Point-of-Care Ultrasound Fundamentals Course Emergency Medicine
10/23/2023 9:00 AM Matthew Oetgen, M.D., M.B.A. Section on Radiology Program: Imaging Diagnosis and Management of Osteoarticular Infections Orthopaedic Surgery and Sports Medicine
10/23/2023 9:00 AM Christina Feng, M.D. Masses for the Masses: Abdominal Masses in Children Surgeon
10/23/2023 9:00 AM Narendra Shet, M.D. Section on Radiology Program: Imaging Diagnosis and Management of Osteoarticular Infections Radiology
10/23/2023 9:00 AM Shireen Atabaki, M.D., M.P.H. Section on Advances in Therapeutics and Technology Program Telemedicine
10/23/2023 1:00 PM Brian Reilly, M.D. Pediatric Otolaryngology: Back to Basics Otolaryngology
10/23/2023 1:00 PM Sonali Basu, M.D. Point-of-Care Ultrasound Critical Competency Course CCM
10/23/2023 1:00 PM Vanessa Madrigal, M.D. Joint Program: Section on Bioethics, Section on LGBT Health and Wellness and Section on Minority Health, Equity, and Inclusion Critical Care
10/23/2023 2:00 PM Rebecca Persky, M.D. Menstrual Disorders: Primary or Secondary Amenorrhea Endocrinology
10/23/2023 5:00 PM Christina Feng, M.D. Masses for the Masses: Abdominal Masses in Children Surgeon
10/24/2023 9:00 AM Vanessa Madrigal, M.D. Section Showcase: Applying Ethics Principles and Tools To Advocate for Vulnerable Populations Critical Care

 

two balls -- one with a sad face and one with a happy face

Understanding quality of life for children with hypochondroplasia

two balls -- one with a sad face and one with a happy face

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.

 

DNA molecule

New genetic cause of overgrowth syndrome caused by SPIN4 variant

DNA molecule

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.

U.S. News Badges

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

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

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

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

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

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

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

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

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

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

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

woman getting blood draw

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

woman getting blood draw

In a study published in the American Journal of Obstetrics and Gynecology, researchers provide context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome (TS).

Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is currently offered to all pregnant women regardless of the fetal risk. While this test has excellent value to screen for chromosomal abnormalities such as Down syndrome, the test has a much lower positive predictive value for sex-chromosome abnormalities such as Turner syndrome. In a study published in the American Journal of Obstetrics and Gynecology, researchers provide context and expert recommendations for maternal and fetal evaluation and management when cfDNA screening is positive for monosomy X or Turner Syndrome (TS).

The manuscript was put together by the Turner Syndrome Special Interest Group (TS SIG) of the Pediatric Endocrine Society, chaired by Roopa Kanakatti Shankar, M.D., endocrinologist at Children’s National Hospital, along with other specialists including a gynecologist, maternal fetal medicine expert, cardiologists and pediatric endocrinologists.

The big picture

The field of NIPT using cfDNA testing has advanced considerably making it routine in the care of pregnant women and more couples are opting for it. This will lead to an increased detection of monosomy X overall — some of which may be true positives, but others may be false positives, or even an indicator of maternal TS rather than an affected fetus. This article discusses the changing landscape and provides an expert opinion on how to manage these scenarios.

How does this work move the field forward?

“We hope that this will increase provider knowledge and recognition of the pitfalls of NIPT as a screening test for sex-chromosome disorders such as monosomy X,” says Dr. Kanakatti Shankar. “It will also provide a framework for the next diagnostic steps, management and referrals that a provider may take to optimize care for both mother and child.”

How is Children’s National leading in this space?

Current guidelines for the care of individuals with TS throughout the lifespan do not specifically address management of individuals with a cell-free DNA screen positive for monosomy X.

“As chair of the TS Special Interest Group, I was able to lead this unique collaborative effort which we hope will lead to better understanding of NIPT results in the context of TS and for multispecialty providers to improve prenatal detection and timely care,” says Dr. Kanakatti Shankar.

Read more about the study, Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.

Abstract Happy 2022 New Year greeting card with light bulb

The best of 2022 from Innovation District

Abstract Happy 2022 New Year greeting card with light bulbA clinical trial testing a new drug to increase growth in children with short stature. The first ever high-intensity focused ultrasound procedure on a pediatric patient with neurofibromatosis. A low dose gene therapy vector that restores the ability of injured muscle fibers to repair. These were among the most popular articles we published on Innovation District in 2022. Read on for our full top 10 list.

1. Vosoritide shows promise for children with certain genetic growth disorders

Preliminary results from a phase II clinical trial at Children’s National Hospital showed that a new drug, vosoritide, can increase growth in children with certain growth disorders. This was the first clinical trial in the world testing vosoritide in children with certain genetic causes of short stature.
(2 min. read)

2. Children’s National uses HIFU to perform first ever non-invasive brain tumor procedure

Children’s National Hospital successfully performed the first ever high-intensity focused ultrasound (HIFU) non-invasive procedure on a pediatric patient with neurofibromatosis. This was the youngest patient to undergo HIFU treatment in the world.
(3 min. read)

3. Gene therapy offers potential long-term treatment for limb-girdle muscular dystrophy 2B

Using a single injection of a low dose gene therapy vector, researchers at Children’s National restored the ability of injured muscle fibers to repair in a way that reduced muscle degeneration and enhanced the functioning of the diseased muscle.
(3 min. read)

4. Catherine Bollard, M.D., M.B.Ch.B., selected to lead global Cancer Grand Challenges team

A world-class team of researchers co-led by Catherine Bollard, M.D., M.B.Ch.B., director of the Center for Cancer and Immunology Research at Children’s National, was selected to receive a $25m Cancer Grand Challenges award to tackle solid tumors in children.
(4 min. read)

5. New telehealth command center redefines hospital care

Children’s National opened a new telehealth command center that uses cutting-edge technology to keep continuous watch over children with critical heart disease. The center offers improved collaborative communication to better help predict and prevent major events, like cardiac arrest.
(2 min. read)

6. Monika Goyal, M.D., recognized as the first endowed chair of Women in Science and Health

Children’s National named Monika Goyal, M.D., M.S.C.E., associate chief of Emergency Medicine, as the first endowed chair of Women in Science and Health (WISH) for her outstanding contributions in biomedical research.
(2 min. read)

7. Brain tumor team performs first ever LIFU procedure on pediatric DIPG patient

A team at Children’s National performed the first treatment with sonodynamic therapy utilizing low intensity focused ultrasound (LIFU) and 5-aminolevulinic acid (5-ALA) medication on a pediatric patient. The treatment was done noninvasively through an intact skull.
(3 min. read)

8. COVID-19’s impact on pregnant women and their babies

In an editorial, Roberta L. DeBiasi, M.D., M.S., provided a comprehensive review of what is known about the harmful effects of SARS-CoV-2 infection in pregnant women themselves, the effects on their newborns, the negative impact on the placenta and what still is unknown amid the rapidly evolving field.
(2 min. read)

9. Staged surgical hybrid strategy changes outcome for baby born with HLHS

Doctors at Children’s National used a staged, hybrid cardiac surgical strategy to care for a patient who was born with hypoplastic left heart syndrome (HLHS) at 28-weeks-old. Hybrid heart procedures blend traditional surgery and a minimally invasive interventional, or catheter-based, procedure.
(4 min. read)

10. 2022: Pediatric colorectal and pelvic reconstructive surgery today

In a review article in Seminars in Pediatric Surgery, Marc Levitt, M.D., chief of the Division of Colorectal and Pelvic Reconstruction at Children’s National, discussed the history of pediatric colorectal and pelvic reconstructive surgery and described the key advances that have improved patients’ lives.
(11 min. read)

coronavirus and DNA

Case study: COVID-19 patient with autoimmune adrenal insufficiency and hypothyroidism

coronavirus and DNA

This is the first report of a pediatric patient with COVID-19 who developed autoimmune thyroid and cortisol deficiency, although not confirmed that it was related or triggered by the COVID-19 infection.

There is emerging speculation that the inflammatory state associated with SARS-CoV-2 infection may trigger autoimmune conditions, but no causal link has been established. In a case study, published in Hormone Research in Paediatrics, researchers at Children’s National Hospital report a 14-year-old girl admitted with COVID-19 and symptoms of MIS-C who was then recognized to have autoimmune polyglandular syndrome (APS2). This is the first report of a pediatric patient with COVID-19 who developed autoimmune thyroid and cortisol deficiency, although not confirmed that it was related or triggered by the COVID-19 infection.

What this means

APS2 is rare in children and has an incidence of 1 in 20,000. Until now, there have only been reports of autoimmune thyroiditis and adrenal insufficiency in adults post-COVID-19.

“The role of COVID-19 in the etiopathogenesis of APS2 in this case remains unclear,” says Myrto Flokas, M.D., endocrinology fellow at Children’s National Hospital and first author of the case study. “But we suspect that it may have contributed to the rapid progression and severe clinical manifestations of both adrenal insufficiency and hypothyroidism leading to the presentation akin to MIS-C.”

The hold-up in the field

COVID-19 has been reported to affect the immune system and may serve as a trigger for autoimmune diseases similar to other viral infections.

“This is a case-report and while we cannot draw any mechanistic conclusions or infer causality, it is the first pediatric report of an association,” says Roopa Kanakatti Shankar, M.D., endocrinologist at Children’s National and one of the authors of the case study.  “We hope it will contribute to this novel field as our understanding of COVID-19 and its myriad effects on the immune system is still evolving.”

Why it matters

This case will alert clinicians to be mindful of the association and similarities in presentation of adrenal insufficiency to MIS-C and consider adrenal crisis in the differential diagnosis of such a presentation.

You can read the full case study, New-Onset Primary Adrenal Insufficiency and Autoimmune Hypothyroidism in a Pediatric Patient Presenting with MIS-C, in Hormone Research in Paediatrics.

DNA strands

Whole genome sequencing solves precocious puberty case

DNA strands

By conducting whole-genome sequencing, doctors were able to discover the cause of a patient’s severe precocious puberty.

A true medical anomaly — a patient with severe precocious puberty starting in infancy later developed bilateral testicular tumors. Despite extensive testing at multiple other hospitals, no one had been able to understand the underlying cause of his precocious puberty. That is until now, through a study led by Andrew Dauber, M.D., M.M.Sc., chief of Endocrinology at Children’s National Hospital.

The hold-up in the field

Before receiving care at Children’s National, the patient’s diagnostic workup was limited by genetic testing modalities and the ability to enroll him in an innovative research protocol.

Moving the field forward

“We were able to enroll the patient in a research protocol that allowed them to sequence his whole genome,” says Dr. Dauber. “Both in a DNA sample from his blood as well as in a sample from one of his testicular tumors, which was being removed surgically.”

Dr. Dauber then performed an analysis of the genome data and found that the patient had a mutation in the luteinizing hormone receptor (LHR), which was present in the testicle but not in his blood. This is called a somatic mutation. The LHR receives the signal from the pituitary gland, which tells the testicle to make testosterone. In this case, the LHR is always turned on, which makes him develop Leydig cell tumors in his testes, overproducing testosterone, causing him to have very early puberty.

By conducting whole-genome sequencing of the tumor and blood samples, the patient was confirmed to have bilateral, diffuse Leydig cell tumors harboring the somatic gain-of-function p.Asp578His variant in the LHCGR gene.

This mutation had been identified before in patients with isolated tumors but never in someone with diffuse bilateral tumors.

The patient benefit

By using cutting-edge genomic approaches, medical providers can identify unknown causes of endocrine disorders. It also stresses the importance of the clinical team working with translational researchers to determine answers for patients.

“With a more definitive diagnosis and understanding of what these tumors are, researchers can better counsel the family about the treatment options,” says Dr. Dauber. Other members of the Children’s National team that contributed to this work include Seth Berger, M.D., Ph.D.; Daniel Casella, M.D.; and Emmanuèle C Délot, Ph.D.

You can read the full study, Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant, in the Journal of the Endocrine Society.

girl monitoring blood sugar

Continuous glucose monitoring use patterns in young children after T1D diagnosis

girl monitoring blood sugar

Continuous glucose monitoring (CGM) is a blood glucose monitoring device worn on the body that is linked to positive glycemic outcomes in people with Type 1 diabetes

Continuous glucose monitoring (CGM) is a blood glucose monitoring device worn on the body that is linked to positive glycemic outcomes in people with Type 1 diabetes (T1D). However, very little research has examined CGM use and glycemic outcomes in young children, particularly those newly diagnosed with T1D.

A new Diabetes Technology and Therapeutics study led by Randi Streisand, Ph.D., C.D.C.E.S., Chief of Psychology and Behavioral Health at Children’s National Hospital, and others identified four meaningful trajectories of CGM use among young children across 18-months post-T1D diagnosis: those who “always” used CGM; those who got on CGM later but stayed on it (“late/stable”); those who used CGM inconsistently; and those who “never” used CGM. The investigators conducted a study of 157 parents of young children (1-6 years) newly diagnosed with T1D who enrolled in a behavioral intervention.

Importantly, the authors found that those with private insurance were more likely than those with only public insurance to be in the “always” and “late/stable” groups (as opposed to the “never” group). Those in the “always” and “late/stable” groups also had better glycemic outcomes than those in the “never group” at 18-months post-T1D diagnosis.

“This research highlights that insurance type can be a barrier to accessing CGM,” Dr. Streisand noted. “Further, this is one of the first studies, among newly diagnosed young children, to show that CGM initiation at diagnosis or near diagnosis followed by sustained use is associated with better glycemic outcomes compared to never initiating CGM, supporting findings from other studies conducted with older youth.”

The findings inform clinical care with patients as it suggests that, when clinically appropriate, CGM initiation near or at the time of diagnosis benefits glycemic outcomes in young children when followed by sustained use. This is the only study to examine patterns of CGM use among 1-6-year-old children newly diagnosed with T1D over the first 18-months post-diagnosis.

“It was exciting to find differences in glycemic outcomes based on CGM initiation and use in this unique population,” Dr. Streisand said. However, the authors concluded that, given the health benefits of CGM, further exploration of barriers to CGM access and use among some families is needed.

In addition to Dr. Streisand, other Children’s National co-authors include Carrie Tully, Ph.D.;  Maureen Monaghan, Ph.D., C.D.E., and Christine Wang, Ph.D.