The Center for Genetic Muscle Disorders conducts innovative research in neuromuscular disorders affecting children and adults. We interact closely with other clinical researchers and basic scientists to understand disease mechanisms so as to ultimately provide novel treatments. While the genetic basis is known for most genetic muscle disorders, there are no cures and patients have few treatment options. Active participation in research programs allows the Center to better serve patients by providing direct access to potential trials for which they may be eligible.


A Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy

Johns Hopkins IRB Protocol Number: IRB00320733
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Recruiting

Part 1: CANYON is a double-blind, randomized, placebo-controlled design to investigate the effect of sevasemten on the safety, pharmacokinetics, biomarkers, and functional measures. Approximately 32 adults and 18 adolescents with Becker muscular dystrophy are planned to enroll in this study. This study will have up to a 4-week Screening period, a 12-month Treatment period, followed by a 4-week follow-up period.This is now fully enrolled.

Part 2: GRAND CANYON or Cohort 6 is a double-blind, randomized, placebo-controlled design to investigate the safety and efficacy of sevasemten in adults with Becker muscular dystrophy after 18 months of treatment. Approximately 120 adults with Becker muscular dystrophy are planned to enroll in this study. This study will have up to a 4-week Screening period, an 18-month Treatment period, followed by a 4-week follow-up period.

Related Link: Clinicaltrials.gov- NCT05291091

A two-part multicenter study: a randomized, double-blind, placebo-controlled dose-escalation safety phase (Part 1) followed by double-blind, placebo-controlled, adaptive phase (Part 2) study to evaluate the safety and efficacy of AB-1003 in adult subjects

Johns Hopkins IRB Protocol Number: IRB00326551
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Recruiting

The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). Participants will be treated in sequential, dose-level cohorts. AB-1003 is an experimental gene therapy that sends corrected copies of the FKRP gene to some cells in muscles, which may create enough FKRP protein to keep muscles healthy.

Related Link: Clinicaltrials.gov -NCT05230459

A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48 Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Patients with Facioscapulohumeral Muscular Dystrophy (1821-FSH-301)

Johns Hopkins IRB Protocol Number: IRB00334071
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Not Recruiting

This is a study to evaluate the safety and efficacy of losmapimod in treating participants with Facioscapulohumeral Muscular Dystrophy (FSHD). Participants diagnosed with Facioscapulohumeral muscular dystrophy type 1 (FSHD1) or Facioscapulohumeral muscular dystrophy type 2 (FSHD2) will participate in Part A (Placebo-controlled treatment period) and will be randomized in a 1:1 ratio to receive losmapimod 15 milligrams (mg) or placebo orally twice daily (BID). Upon completion of Part A, participants will have the option to rollover into Part B (open-label extension) to evaluate the long-term safety, tolerability, and efficacy of losmapimod and will receive losmapimod 15 mg orally BID.

Related Link: Clinicaltrials.gov- NCT05397470

A Phase II, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate The Pharmacodynamics, Safety, Tolerability, Pharmacokinetics, and Efficacy of RO7204239 in Participants with Facioscapulohumeral Muscular Dystrophy

Johns Hopkins IRB Protocol Number:  IRB00347627

Principal Investigator: Doris Leung, MD, PhD

Status: Active, Not Recruiting

The purpose of this study is to evaluate the pharmacodynamics, safety, tolerability, pharmacokinetics, and efficacy of RO7204239, a humanized monoclonal antibody that binds to human latent myostatin, in ambulant adult participants with facioscapulohumeral muscular dystrophy (FSHD). Participants will complete a 4-week pre-treatment period to collect baseline movement data with a wearable device, then receive SC RO7204239 every 4 weeks for 52 weeks. After the treatment period, participants will have the option to receive RO7204239 for an additional 52 weeks.

Related Link: Clinicaltrials.gov- NCT05548556

Defining Endpoints in Becker Muscular Dystrophy (GRASP-01-002)

Johns Hopkins IRB Protocol Number: IRB00363435
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Recruiting

This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)

Related Link: Clinicaltrials.gov- NCT05257473

A 2-part Phase 2 Study of Safety, Pharmacokinetics and Biomarkers in Children with Duchenne Muscular Dystrophy including a Randomized, Double-Blind, Placebo-Controlled Part A, Followed by an Open-Label Part B (EDG-5506-210)

Johns Hopkins IRB Protocol Number: IRB00363526
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Recruiting

The LYNX study is a 2-part, multi-center, Phase 2 study to evaluate the effect of EDG-5506 on safety, pharmacokinetics and biomarkers of muscle damage in approximately 54 children with DMD treated with oral, once-daily EDG-5506 for 24 months. This study will have up to a 4-week Screening period, a 12-week randomized, double-blind, placebo controlled treatment period (Part A), a 92-week open-label extension period (Part B), and a 2-week follow up period.

Approximately 54 participants aged 4 to 9 years inclusive will be randomized to EDG-5506 or placebo in a 2:1 ratio. Five dose cohorts (C1, C2, C3, C4 and C5) of approximately 9 participants each will be enrolled sequentially. An additional cohort, Cohort 2NS, to include participants (aged 4 to 7 years inclusive) not currently treated with corticosteroids, will enroll 

Related Link: Clinicaltrials.gov- NCT05540860

A Phase 3 Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of BBP-418 (ribitol) in Patients with Limb Girdle Muscular Dystrophy 2I (LGMD2I)

Johns Hopkins IRB Protocol Number: IRB00382616
Principal Investigator: Doris Leung, MD, PhD
Status: Active, Recruiting

This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the significant majority of existing diagnosed patients based upon the established epidemiology of the disease.

Related Link: Clinicaltrials.gov- NCT05775848

An Open-Label Extension Study to Assess the Long-term Effect of EDG-5506 on Safety, Biomarkers, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy (EDG-5506-203)

Johns Hopkins IRB Protocol Number: IRB00412743
Principal Investigator: Doris Leung, MD, PhD
Status: Active, enrolling by invitation

This is an open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of sevasemten. EDG-5506-203 MESA will provide continued access to sevasemten treatment to participants with Becker muscular dystrophy who were previously enrolled in EDG-5506-002 ARCH, completed EDG-5506-201 CANYON and GRAND CANYON, or completed EDG-5506-202 DUNE.

Related Link: Clinicaltrials.gov- NCT06066580

Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

Johns Hopkins IRB Protocol Number:  NA_00065256
Principal Investigator:  Doris Leung, M.D., Ph.D.
Status:  Active, recruiting

This is clinical research study that will utilize magnetic resonance imaging and spectroscopy to identify unique musculoskeletal imaging profiles in the subjects with facioscapulohumeral muscular dystrophy (FHSD) compared to healthy volunteers and individuals with other forms  of skeletal muscle disease. A subset of individuals with FSHD will be enrolled in a longitudinal cohort study to track changes in imaging and spectroscopy over time.

A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD) with Open-Label Extension (OLE)

Johns Hopkins IRB Protocol Number: IRB00212675
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, not recruiting

This is a multi-site, randomized, double-blind, placebo-controlled study to determine whether an investigational study drug called losmapimod may slow down or stop the progression of the disease in individuals with facioscapulohumeral muscular dystrophy (FSHD). The study, sponsored by Fulcrum Therapeutics, enrolled ambulatory adults with FSHD. The initial 48-week double-blind phase was followed by an open-label extension period where all participant are receiving losmapimod.

Related Link:  ClinicalTrials.gov - NCT 04264442

A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study with an Open-Label Extension to Determine the Safety, Pharmacokinetics and Efficacy of Oral Ifetroban in Subjects with Duchenne Muscular Dystrophy

Johns Hopkins IRB Protocol Number: IRB00257427
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, recruiting

This is a phase 2 study for males with Duchenne Muscular Dystrophy (DMD) ages 7 years and above which aims to determine the safety and efficacy of an investigational drug, ifetroban, in the heart of patients with DMD. Participants will have an equal chance of being assigned to any of the three groups (low dose ifetroban, high dose ifetroban, or placebo). Ifetroban targets cardiac muscle by cardiomyocyte protection and improving heart function.

Participants will be in this study for about 12 months where they will be asked to come to our Site four times. There is an optional 12-month extension in which all participants will receive ifetroban. The study drug will be in capsule form. Approximately 48 subjects will be enrolled in the study sponsored by Cumberland Pharmaceuticals, Inc.

Related Link:  ClinicalTrials.gov - NCT03340675

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Johns Hopkins IRB Protocol Number: IRB00275226
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, recruiting

The primary goal of this study is to collect motor and functional outcomes specific to facioscapulohumeral muscular dystrophy (FSHD) over time. This will help ensure that the best level of clinical care is provided. Another hope is to speed up drug development by gaining a better understanding of how having FSHD impacts your motor function and other health outcomes (i.e. your breathing) and how big a change in motor function would be clinically meaningful. A total of 250 patients, genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring, from different participating sites will be followed for 3 years. This is a reliance study with University of Kansas Medical Center (KUMC).

Related Link: ClinicalTrials.gov - NCT04635891

A Long-term Observational Study Evaluating Sarepta Therapeutics, Inc.’s Exon-Skipping Therapies in Patients with Duchenne Muscular Dystrophy under Conditions of Routine Clinical Practice (Protocol 4658-403)

Johns Hopkins IRB Protocol Number: IRB00195928
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, recruiting

Duchenne muscular dystrophy (DMD) patients being treated by their clinic doctor with Sarepta’s exon skipping therapies may participate. This observational study aims to collect long-term medical information from DMD patients receiving eteplirsen or, golodirsen, or casimersen. Medical information from routine clinical care will be obtained for a minimum of 5 years. There will be no additional medical procedures. There is no direct benefit to participants from being in this study. but the study hopes to learn more about patients being treated with these exon skipping therapies. This study is sponsored by Sarepta Therapeutics, Inc.

Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD (RESOLVE)

Johns Hopkins IRB Protocol Number: IRB00158125
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, not recruiting

This 24-month longitudinal multi-site FSHD study aims to hasten drug development by validating clinical outcome assessments: 1) an evaluator-administered functional composite (FSHD-COM) composed of disease-relevant standard functional tasks, and 2) electrical impedance myography (EIM), a non-invasive physiological biomarker for measuring changes in muscle composition. There will be 150 participants, genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring ages 18-75 years. This large prospective study will simultaneously allow us to re-assess the rate of disease progression of FSHD in light of specific demographic and genetic factors that may influence how to define criteria for trial eligibility. This is a reliance study with University of Kansas Medical Center (KUMC).

Related Link: ClinicalTrials.gov - NCT03458832

Defining Clinical Endpoints in LGMD

Johns Hopkins IRB Protocol Number: IRB003981289
Principal Investigator: Doris Leung, M.D., Ph.D.
Status: Active, recruiting

The purpose of this multi-site natural history study is to learn more about Limb Girdle Muscular Dystrophy (LGMD). The study aims to define clinical outcome assessments (COAs) where LGMDs converge and diverge in performance. This will help hasten therapeutic development and ensure properly powered clinical trials. Participation in this study will last anywhere from 1 day to 12 months. There will be about 184 participants ages 4-65 years. The following are sponsoring this study: Coalition to Cure Calpain, Sarepta Therapeutics, Muscular Dystrophy Association.

Related Link:  ClinicalTrials.gov - NCT03981289