Pediatrics

Host: Stephanie Ambrose, DO

Guest: Jenny McDaniel, MD

Stay ahead in hemophilia care with the new and emerging therapies transforming treatment approaches. The entire care team should be prepared to apply these innovations in a personalized way. This activity delivers key insights from the recent HTRS meeting along with foundational knowledge on novel therapies, presented in 5-minute modules for easy learning. *This content has not been endorsed by HTRS.

Guest: Joshua Milner, M.D.

Guest: Eric Silver, M.D.

Guest: Steven Lobritto, M.D.

On this episode of Advances in Care, host Erin Welsh explores the story behind the GUARDIAN study, where thousands of newborn babies have been screened against rare disease by sequencing their genes, and looking for more conditions than any of the current standard screening panels. First, she hears from Dr. Jordan Orange, Physician-in-Chief at Morgan Stanley Children’s Hospital at NewYork-Presbyterian and Columbia, about why genetic testing is a promising way of not only catching treatable rare diseases in infants, but also expanding health equity and medical resources to marginalized populations.

Erin also hears from Dr. Josh Milner, a pediatric immunologist who treated a patient with a rare form of SCID, or severe combined immune deficiency, also known as bubble boy disease that was detected in the GUARDIAN screening panel. SCID is a disease that typically occurs in 1 of 50,000 babies. But GUARDIAN caught two cases within the first 10,000 babies involved in the program, indicating that the rate of the disease might be higher than expected, and that the most accurate way to detect is through genetic screening.

Dr. Steven Lobritto, a pediatric gastroenterologist, also weighs in on how genetic screening can help identify Wilson’s disease, a copper storage …

Guest: Jonathan Strober, MD

Misinterpreted symptoms and limited access to treatment can make it difficult to manage myasthenia gravis among adolescents and young adults. Join Dr. Jonathan Strober as he explains how we can address gaps in care for this population. Dr. Strober is a Professor of Neurology at the University of California, San Francisco and the Director of the Neuromuscular Clinic at UCSF Benihoff Children’s Hospital.

Guest: John Brandsema, MD

As patients with Duchenne muscular dystrophy (DMD) age, their treatment regimens, considerations, and goals change. That’s why Dr. John Brandsema is here to talk about how we can best treat and support patients with DMD throughout their entire care journey. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Guest: John Brandsema, MD

Between 60 and 70 percent of patients with Duchenne muscular dystrophy (DMD) also have a diagnosable neurobehavioral phenotype like autism, ADHD, and anxiety. Here to talk about these common neurobehavioral issues in patients with DMD and how we can manage them is Dr. John Brandsema, Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: John Brandsema, MD

The gene therapy delandistrogene moxeparvovec was recently approved for patients with Duchenne muscular dystrophy (DMD) who are at least 4 years old. This expanded approval is based on the efficacy and safety results from the EMBARK trial. Joining Dr. Charles Turck to break down those key findings and the implications of this advancement in DMD treatment is Dr. John Brandsema. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia, where one of the clinical trials for this gene therapy took place.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: Nadia Merchant, MD

Guest: Melody Shi, MD

Guest: Despoina Galetaki, MD

Steroids are one of the main treatments for patients with Duchenne muscular dystrophy (DMD), but prolonged steroid use can come with many endocrine side effects, like weight gain, insulin resistance, and adrenal insufficiency. To learn more about these endocrine complications and surveillance, a recent survey was conducted, and here to share the results with Dr. Charles Turck are study authors Drs. Nadia Merchant, Melody Shi, and Despoina Galetaki.

Guest: Donald Y. Leung, MD, PhD

There’s currently no way of knowing who’s going to develop a food allergy and who isn’t, which means early treatment or even prevention can't begin. But that might all change based on a recent study, which found that skin biomarkers may be able to predict the development of food allergies in pediatric patients. Here with Dr. Jody Takemoto to talk about these findings and their potential implications on food allergy care and prevention is Dr. Donald Leung, Head of Division of Pediatric Allergy and Immunology at National Jewish Health in Denver, Colorado.

Host: Peter E. Newburger, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Jolan Walter, MD, PHD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.