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Clinical Trials/NCT05989620
NCT05989620
Recruiting
Not Applicable

Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)

Virginia Commonwealth University1 site in 1 country1,000 target enrollmentOctober 18, 2023

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
LGMD1B
Sponsor
Virginia Commonwealth University
Enrollment
1000
Locations
1
Primary Endpoint
To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies
Status
Recruiting
Last Updated
5 months ago

Overview

Brief Summary

This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).

Detailed Description

Limb Girdle Muscular Dystrophy (LGMD) 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. Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes). Pompe disease is a rare, multisystemic, hereditary disease which is caused by pathogenic variations in the GAA gene. Late onset Pompe disease (LOPD) refers to cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year. LOPD is characterized by skeletal muscle weakness which causes mobility problems and impacts the respiratory system. The overall goal of this project is to extend prior observational studies conducted within the GRASP LGMD network to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for multiple rare types of muscular dystrophy to hasten therapeutic development.

Registry
clinicaltrials.gov
Start Date
October 18, 2023
End Date
May 1, 2029
Last Updated
5 months ago
Study Type
Observational
Sex
All

Investigators

Responsible Party
Sponsor

Eligibility Criteria

Inclusion Criteria

  • Age between 6-50 years at enrollment
  • Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with proximal weakness)
  • Genetic confirmation of a LGMD, DM2, or LOPD
  • FVC above 30% of predicted

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
  • Participation in a clinical trial receiving an investigational product

Outcomes

Primary Outcomes

To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies

Time Frame: Baseline to 24 months

The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54.

Secondary Outcomes

  • To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
  • To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
  • To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.(Baseline to 24 months)
  • To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies(Baseline to 24 months)
  • To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.(Baseline to 24 months)
  • To explore the utility of the Domain Delta as a patient-reported outcome measure in the muscular dystrophies(Baseline to 24 months)

Study Sites (1)

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