Summary

for people ages 10-65 (full criteria)
at Irvine, California and other locations
study started
estimated completion

Description

Summary

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD 2i to support therapeutic development.

Details

Limb Girdle Muscular Dystrophy (LGMD) 2i is an autosomal recessive form of LGMD that is due to missense mutations in the FKRP gene. Patients develop progressive proximal muscle weakness that leads to loss of ambulation. Patients will also commonly develop a cardiomyopathy and respiratory compromise.

There are promising new therapies that have been developed and as a result therapeutic trials are approaching.

The rationale for this study is to define appropriate COAs for LGMD 2i, which will facilitate therapeutic development and ensure properly powered clinical trials. In addition, measurement of dystroglycan in muscles represents a potential muscle biomarker that could be used in early phase clinical trials as a measure of target engagement. The clinical utility of changes in dystroglycan has not been validated in human samples.

Keywords

Muscular Dystrophies Limb Girdle Muscular Dystrophy LGMD FKRP Clinical Research ML Bio Solutions LGMDR9 LGMD 2i Muscular Dystrophies, Limb-Girdle

Eligibility

You can join if…

Open to people ages 10-65

  • Age between 10-65 at enrollment
  • Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)
  • A genetically confirmed mutation in FKRP (LGMD 2i).
  • Up to 60 participants will complete the10-meter walk test in greater than 4 seconds.
  • Up to 40 participants will complete the 10-meter walk test in over 12 seconds.
  • Up to 20 participants may be non-ambulatory

You CAN'T join if...

  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.
  • History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant.
  • Positive pregnancy test at time any timepoint during the trial

Locations

  • University of California Irvine
    Irvine California 92697 United States
  • UC Denver
    Aurora Colorado 80045 United States

Details

Status
accepting new patients by invitation only
Start Date
Completion Date
(estimated)
Sponsor
Virginia Commonwealth University
ID
NCT04202627
Study Type
Observational
Last Updated