Research on Neuromuscular Disorders

Physicians and scientists with the Neuromuscular Program at The Children’s Hospital of Philadelphia continue to research neuromuscular diseases and find ways to improve outcomes for children with the disorders. 

If you or someone you know is interested in taking part in a study, contact the Division of Neurology at 215-590-1719. For eligibility information, access the links below.

Current studies

Imaging Duchenne Muscular Dystrophy Research Study

CHOP is participating in the Imaging Duchenne Muscular Dystrophy (DMD) Research Study funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS). The groups recently awarded a 5-year, multi-million dollar research grant to investigate the potential of magnetic resonance imaging (MRI) to noninvasively monitor disease progression in Duchenne muscular dystrophy. The purpose of this study is to determine if magnetic resonance imaging (MRI) can be used to detect healthy and injured tissue in boys age 5 to 14 with Duchenne muscular dystrophy. Learn more about the study or email study coordinator Michele Toms.

Clinical Study of Spinal Muscular Atrophy

CHOP is participating in the Clinical Study of Spinal Muscular Atrophy (SMA), funded by the Pediatric Neuromuscular Clinical Research Network (PNCR) for SMA. The purpose of this study is to learn more about the natural history of SMA and to obtain information needed to plan and prepare for a clinical trial for SMA.

We're looking for patients of any age with SMA diagnosed before the age of 19 years. While we are looking to recruit patients with all clinical types of SMA, we can only enroll patients with a deletion of exon 7 and those stable enough to travel to one of the PNCR clinical sites for study visits.

This study of SMA is being conducted at three clinical sites on the east coast:

  • The Children’s Hospital of Philadelphia (Philadelphia)
  • Columbia University Medical Center (New York City)
  • Children's Hospital (Boston)

Participants will be evaluated at one of these clinics regularly at no charge. During each visit, participants undergo several tests. Participants are expected to travel to their enrolling clinic every 2 months for the first 6 months, every 3 months for the next 6 months, and every 6 months thereafter, for a period of 36 month

Recently completed trials

  • A Phase 1 Study of Phenylbutyrate in Spinal Muscular Atrophy, sponsored by the National Institutes of Health
  • A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy. This study is a Phase 2b, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, efficacy and safety study, designed to document the clinical benefit of PTC124 when administered as therapy of patients with DMD/BMD due to a nonsense mutation (premature stop codon) in the dystrophin gene.
  • The United Dystrophinopathy Project (UDP) funded by Parent Project Muscular Dystrophy and the National Institutes of Health for Translational Research in the Dystrophinopathies
  • Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA) Open Label Pilot Trial of Rilutek in Infants with SMA. (AmSMART)
  • Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA) Estimation of Riluzole Steady-State Pharmacokinetics and Metabolism in Infants with Spinal Muscular Atrophy (SMA).
  • Clinical Trials for Pediatric Spinal Muscular Atrophy (SMA)
  • Reliability Study of the Motor Unit Number Estimate (MUNE)
  • Clinical Trials for Pediatric Spinal Muscular Atrophy: Reliability and Validity of a Quality of Life Tool (AmSMART-QOL)
  • SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro (Fischbeck)
  • Defining Outcome Parameters for Clinical Trials in Spinal Muscular Atrophy, Type 1 (CHOP SMA)

Reviewed on May 13, 2014