Clinical Research
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.
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)
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.
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.
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.