Biomarker Development in LGMD2i (MLB-01-001)

ML Bio Solutions

Status: Completed

Conditions: Muscular Dystrophies; Limb Girdle Muscular Dystrophy

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT04202627

HM20018755

Details and patient eligibility

About

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 LGMD2i to support therapeutic development.

Full description

Limb Girdle Muscular Dystrophy (LGMD) 2i is an autosomal recessive form of LGMD that is due to missense mutations in the Fukutin-related protein (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 LGMD2i, 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.

Enrollment: 101 patients

Sex: All

Ages: 10 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 (LGMD2i)
• Willing and able to give informed consent and follow all procedures and requirements

Exclusion criteria

• 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
• A 10-meter walk time of <4 seconds