The list below is focused on LGMD2I. If you know other studies on LGMD2I, send us the information so we can add them here ([email protected]). You can read more information on clinical trials in rare diseases here. The NIH’s Genetic and Rare Diseases Information Center has a useful information about financial assistance to families participating in clinical trials – here is the link to GARD’s Tips for Finding Financial Aid.

 

Companies with clinical development of therapies for LGMD2I

MLBio: Clinical development of Ribitol
  • For more details and information please contact Neha Gandhi (Email)
AskBio: Clinical development of investigational gene therapy
  • The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with LGMD2I/R9.
  • Recruiting. If you have been diagnosed with LGMD2I/R9 and are between the ages of 18 and 65, you may be able to take part in this study. Please visit this link for more information.
  • Clinicaltrial.gov: NCT05230459
  • Six current locations are recruiting participants in the Unites States: University of Iowa; University of Kansas; Kennedy Krieger Institute; Virginia Commonwealth University; University of Washington (Seattle, WA); University of California – Irvine.

Open studies

Natural history study in LGMD2I/LGMDR9
  • This multi-center natural history study will help to better understand the disease physiopathology. The study will last 24 months and will consist in following the evolution of the disease in about sixty ambulant patients at least 16 years of age. This study appears to be a prerequisite for the implementation of a Phase I/II gene therapy clinical trial for LGMD2I/LGMDR9.
  • Enrollment was on pause. Restart date unknown
  • France, Denmark, and UK
Natural history study in LGMD2I – Norway
  • This Norwegian study aims to establish the natural history of LGMD2I and identify feasible and sensitive tools and biomarkers to measure disease affection and progression, determine the Norwegian LGMD2I prevalence, carrier frequency and genotypes, and to assess health-related quality of life in the Norwegian LGMD2I population. It is a single-center study with Norwegian nationwide enrollment aiming to enroll 106 patients.
  • Enrollment is ongoing
  • Norway
Clinical Trial Readiness for the Dystroglycanopathies
  • LGMD2I is a form of dystroglycanopathy. This natural history study will describe the early signs and symptoms of the dystroglycanopathies and LGMD2I in particular. It will also gather information that is critical to design future clinical studies on promising treatments.
  • Enrollment is ongoing. For more information and possible participation, please contact Carrie Stephan at (319) 356-2673.
  • USA

Closed Studies

Weekly Steroids in Becker Muscular Dystrophy and LGMD
  • The purpose of this study is to evaluate the safety and efficacy of oral weekly Prednisone. The primary objective is safety. The secondary objective is efficacy which will be measured by a change in MRI muscle mass, improved muscle performance, and quality of life.
  • Completed.
  • USA
Biomarker Development in LGMD2I
  • This clinical trial will follow 80 patients at least 10 years of age with a confirmed diagnosis of LGMD2I/LGMDR9 for 12 months. One of the main objectives is to validate a muscle biomarker for LGMD2I/LGMDR9 to support therapeutic development. This is a natural history study that appears to be a prerequisite for the implementation of a Phase I/II trial on the effect of ribitol-based therapeutics.
  • As the company states: “While there is no intervention in this study, participants will be eligible to participate in the late phase clinical trial of BBP-418 (Ribitol). Remote enrollment is available, all travel/study expenses are covered, strict COVID safety precautions are observed.”
  • Completed
  • Several sites in the US (Baltimore, MD; Boston. MA; Kansas City, KS; Irwine, CA; Denver, CO; Iowa City, IA; Washington DC) and one site in Europe (Copenhagen, DK)
LGMD Standards of Care Survey – Clinic
  • The survey aims at understanding the current management and treatment of individuals with Limb Girdle Muscular Dystrophy through patient, caregiver, or clinician report in order to help shape eventual Standards of Care for the LGMDs.
  • Completed
  • Internet survey – Global
A Study of Deflazacort (Emflaza®) in Patients with LGMD2I
  • This study is designed to evaluate the safety and efficacy of deflazacort on the muscle function of 100 participants with LGMD2I. Participants will receive deflazacort 0.6 milligrams per kilograms per day (mg/kg/day) orally for 52 weeks. The study is sponsored by PTC Therapeutics and has clinical trial sites in the USA, Canada, Denmark, France, Germany, Norway, the Russian Federation, and Sweden.
  • Study has been terminated
  • Worldwide
A Trial of PF-06252616 in ambulatory participants with LGMD2I
  • The investigational product PF-06252616 is a humanized anti myostatin monoclonal antibody that neutralizes myostatin (GDF8). Myostatin has been shown to stop the growth of muscles. It is thought that neutralizing myostatin may restart muscle growth. PF-06252616 is in development for the treatment of LGMD2I to preserve and/or improve muscle function.
    This study tested the safety, tolerability, Pharmacokinetics and Pharmacodynamics of PF 06252616 following repeat IV doses in ambulatory adults with LGMD2I.
  • Enrollment is closed
  • USA
Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
  • MRI can provide an objective and precise means to measure the muscle mass. This study is investigating the muscle enlargement seen in calves and tongues of patients affected by Becker muscular dystrophy and LGMD2I.
  • Enrollment is closed
  • Denmark
Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies
  • In this study, people with DMA, BMD, and LGMD2I will be given Coenzyme Q10 (a nutritional supplement) or lisinopril (a drug) to see if it lowers the risk of heart problems compared to people who receive enhanced standard care without being given a drug or nutritional supplement.
  • Enrollment is closed
  • USA