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

Clinical development update – May 2021: Study description 202105 final
For more details and information please contact Debra Frankel at [email protected]

Open studies

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.
Enrollment is ongoing
on RedCap/
– Internet survey – Global
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 and will restart soon
– France, Denmark, and UK
Natural history study in LGMD2I – Norway
Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (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.
Enrollment is ongoing
– Norway
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.”
For more information on the study and how to participate, please contact me (email at the bottom of the page) or Brittney Holmberg at [email protected] or 804-552-0014
Company’s Dear Patient Letter here
– 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)
Clinical Trial Readiness for the Dystroglycanopathies
LGMD2I is a form of dystroglycanopathy. This study will describe the early signs and symptoms of the dystroglycanopathies and LGMD2I, and gather information that is critical to design future clinical studies on promising treatments.
Enrollment is ongoing
– One site: Iowa University Medical Center, Iowa City, Iowa, USA
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.
Enrolling by invitation. For more information on the study and how to participate, please contact me (email at the bottom of the page).
– One site: Northwestern University, Chicago, Illinois, USA

Closed Studies

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
Wellness and Quality of Life Survey of Patients with LGMD2I
The objective is to gather information on disease status, habits, diet, and exercising routines, natural therapies and supplements people affected with LGMD2I use to improve their quality of life.
Enrollment is closed
– Internet survey – Global
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 is testing the safety, tolerability, Pharmacokinetics and Pharmacodynamics of PF 06252616 following repeat IV doses in ambulatory adults with LGMD2I.
Enrollment is closed
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