Neuromuscular Program and Advances at UPMC Children’s

Hoda Z. Abdel-Hamid, MD, is an associate professor in the Department of Pediatrics at the University of Pittsburgh School of Medicine. She is the director of the EMG Laboratory and the Pediatric Neuromuscular Program at UPMC Children’s Hospital of Pittsburgh. Dr. Abdel-Hamid also directs the multidisciplinary Muscular Dystrophy Association (MDA) Clinic at UPMC Children’s.

Dr. Abdel-Hamid earned her medical degree from Cairo University in Egypt. She completed a pediatric residency in Cairo, Egypt, and a pediatric residency at Hurley Medical Center at Michigan State University, followed by both a child neurology residency and neuromuscular/neurophysiology fellowship at UPMC Children’s Hospital of Pittsburgh and the University of Pittsburgh. Dr. Abdel-Hamid then joined the Division of Pediatric Neurology at UPMC Children’s as a faculty member in 2006. Dr. Abdel-Hamid has an active research and clinical trial program at UPMC Children's, and she is an active member of several national programs and committees related to neuromuscular diseases, including the American Association of Neuromuscular and Electrodiagnostic Medicine. 

Dr. Abdel-Hamid evaluates patients with neuromuscular symptoms, performs neurophysiologic studies and Botox injections, orders genetic testing, and prescribes various medical and physical treatments. She follows all patients with pediatric neuromuscular disease in a multidisciplinary setting through the MDA clinic at UPMC Children’s.

Dr. Abdel-Hamid leads a number of therapeutic biomedical trials for Duchenne muscular dystrophy (DMD) and collaborates with other centers and entities for the care of patients with pediatric neuromuscular disease. In the past, Dr. Abdel-Hamid has served on the executive committee of NeuroNEXT, which organizes collaborative studies to test new therapies for various neurologic diseases. Her research interests revolve around DMD, spinal muscular atrophy, and neuromuscular disease in children, including outcomes measures, new therapeutic interventions, and genetic therapies.

Neuromuscular Disease Program and MDA Clinic Growth and Expansion

Since joining UPMC Children’s as a faculty member in 2006, Dr. Abdel-Hamid has expanded the scope and scale of the neuromuscular disease program at UPMC Children’s. The Neuromuscular Program clinic treats all types of neuromuscular disorders, and the MDA Clinic at UPMC Children’s focuses on treating all forms of muscular dystrophy — most notably DMD. The clinics provide a multidisciplinary setting for the diagnostic evaluation and follow-up care of infants and children with known or suspected neuromuscular disorders. The Muscular Dystrophy Association supports the MDA Clinic. The multidisciplinary clinic brings together neurology (Dr. Abdel-Hamid), physiatry (Jason Edinger, DO), pulmonology (Jane Taylor, MD), cardiology, genetic counseling (Deanna Steele, MGC, LCGC), social work (Amber Lewis, MSW), orthopaedics (Ozgur Dede, MD), and physical therapy (Casey Matthews, PT, DPT), to provide collaborative diagnostic and follow-up care to children with neuromuscular disease and their families.

A year after Dr. Abel-Hamid’s arrival at UPMC Children’s, she initiated an EMG-guided Botox injection program to treat patients with spasticity, dystonia, and torticollis.

“The neuromuscular program and clinic that was in place when I arrived at UPMC Children’s was a smaller program run by a mentor of mine who retired. In the first year, we went from about 20 patients undergoing diagnostic testing to more than 130. The number of patients we follow and serve in the MDA clinic has since expanded to include more than 250 individuals and their families,” says Dr. Abdel-Hamid.

Beyond the clinical care programs available to neuromuscular patients at UPMC Children’s, Dr. Abdel-Hamid leads research and clinical trials into various neuromuscular conditions and novel therapeutics.

A History of Clinical Research

With few treatments available and still no cure for muscular dystrophy, clinical and pharmacologic research has continued to gain traction with pharmaceutical companies developing new research programs to develop and test novel therapeutics to treat neuromuscular diseases.

“In 2006, our program at UPMC Children’s was part of a multicenter study on the natural history of DMD. Since that time, we have expanded the clinical research program in pediatric neuromuscular diseases at UPMC Children’s to include multiple multicenter studies in collaboration with pharmaceutical partners working on new drug therapies. Our program was part of the national multicenter study — the EXONDYS 51 study (Promovi) — that ended up deriving the first-ever FDA-approved drug to treat DMD in September 2016,’ says Dr. Abdel-Hamid

More recently, Dr. Abdel-Hamid’s program was part of a second drug trial that successfully achieved FDA-approval to treat another subtype of DMD – the VYONDYS 53 (Essence) study. Approved in December 2019, VYONDYS 53, developed by Sarepta Therapeutics, was approved for treating individuals with Duchenne muscular dystrophy who have a specific genetic mutation of the DMD gene that makes them amenable to exon 53 skipping treatment.

“These new trials and approved therapeutics could only happen in collaboration with pharmaceutical partners and the dedication of the patients and their families who visit the hospital weekly, and sometimes even more frequently, to take part in these ground-breaking trials,” says Dr. Abdel-Hamid.

Beyond the Promovi and Essence trials, Dr. Abdel-Hamid’s program has taken part in more than 15 clinical research studies since she took over as program director. With research coordinator Jennifer Monahan, RN, the program is now looking to collaborate on additional trials, including newer gene therapy trials that are being developed.

“While we have collaborated on a number of important trials in the past, one of our goals for the future is to expand our clinical research program to include gene therapy trials that are evolving within the field. Our service area is approximately a three-hour radius around Pittsburgh. Expanding our clinical trial offerings will help patients in need and limit the amount of travel and distance required for families to take part in some of the cutting-edge clinical trials being developed,” says Dr. Abdel-Hamid.

Currently Open Clinical Trials for Neuromuscular Disorders at UPMC Children’s

Below is a current list of open clinical trials for various neuromuscular disorders at UPMC Children’s. Referring physicians who have patients that may be candidates for enrollment in any of these trials can learn more by contacting research coordinator Jennifer Monahan, RN, at 412-692-5176 or by email at Jennifer.Monahan@chp.edu.

Additional information about each of these trials is available on the UPMC Children's website or by searching under the NCT number on the ClinicalTrials.gov website.

Dr. Abdel-Hamid is the site principal investigator for these neuromuscular disease clinical trials currently open and enrolling patients at UPMC Children’s:

• Long-term Outcomes of Ataluren in Duchenne Muscular Dystrophy (NCT03179631). This is a multicenter, randomized trial to study the long-term effects of ataluren on dystrophin restoration and disease progression in patients with DMD who have the nonsense gene mutation.
• Study of SRP-4045 and SRP-4053 in DMD Patients (ESSENCE) (NCT02500381). This trial seeks to evaluate the efficacy and safety of SRP-4045 and SRP-4053 in treating DMD patients who specifically have the out-of-frame deletion mutations which are amenable to exon 45 or 53 skipping. 
• An Open-Label Extension Study for Patients With Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051 (NCT03675126). This trial is open to previous enrollees of the Promovi trial, and its goal is to determine the safety, tolerability, and pharmacokinetics of ongoing administration via IV infusion of Promovi in patients with Duchenne muscular dystrophy.
• Study for Dose Determination of SRP-5051, Then Dose Expansion in Patients With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment (MOMENTUM) NCT04004065. This randomized, multicenter two-part study will assess the safety and tolerability at multiple ascending dose levels and evaluate the maximum tolerated dose of SRP-5051.