Clinical Research

Natural History Studies & Registries

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Natural History Studies & Registries

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy

Study Name Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy

Study Sponsor Virginia Commonwealth University

Study Status Active, Not Enrolling

Disease Sarcoglycanopathies

Inclusion Criteria Age: 4-65 years, Sex: all

Clinical Research Coordinator Allison Johnston

Principal Investigator Peter Kang

Brief Summary Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. The overall goal of project 1 is to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for limb girdle muscular dystrophies (LGMD) to hasten therapeutic development.

More Info https://clinicaltrials.gov/study/NCT03981289

Defining Endpoints in Becker Muscular Dystrophy

Study Name Defining Endpoints in Becker Muscular Dystrophy

Study Sponsor Virginia Commonwealth University

Study Status Active, Not Enrolling

Disease Becker Muscular Dystrophy

Inclusion Criteria Age: 6+ years, Sex: male

Clinical Research Coordinator Allison Johnston

Principal Investigator Peter Kang

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

More Info https://clinicaltrials.gov/study/NCT05257473

Trial Readiness and Endpoint Assessment in LGMD R1

Study Name Trial Readiness and Endpoint Assessment in LGMD R1

Study Sponsor Virginia Commonwealth University

Study Status Active, Enrolling

Disease Limb Girdle Muscular Dystrophy CAPN3

Inclusion Criteria Age: 12-50 years, Sex: all

Clinical Research Coordinator Allison Johnston

Principal Investigator Peter Kang

Brief Summary This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

More Info https://clinicaltrials.gov/study/NCT05618080

Registry of Patients With a Diagnosis of Spinal Muscular Atrophy

Study Name Registry of Patients With a Diagnosis of Spinal Muscular Atrophy

Study Sponsor AveXis, Inc.

Study Status Active, Enrolling

Disease Spinal Muscular Dystrophy 

Inclusion Criteria Age: any, Sex: any

Clinical Research Coordinator Seth Stafki

Principal Investigator Peter Karachunski

Brief Summary This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice process that a clinician chooses according to their clinical judgement for an SMA patient. Clinical care will not be driven by the protocol. No additional visits or investigations will be performed beyond normal clinical practice. Patients will be followed for 15 years from enrolment or until death, whichever is sooner.

More Info https://clinicaltrials.gov/study/NCT04174157

Interventional Studies

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Interventional Studies

Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I

Study Name Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I

Study Sponsor ML Bio Solutions, Inc.

Study Type Interventional

Study Status Active, Not Enrolling

Disease Limb Girdle Muscular Dystrophy 2I

Inclusion Criteria Age: 12-60 years, Sex: all

Clinical Research Coordinator Allison Johnston

Principal Investigator Peter Kang

Brief Summary 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.

More Info https://clinicaltrials.gov/study/NCT05775848