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

February 6, 2024 updated by: Virginia Commonwealth University

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

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).

Study Overview

Status

Active, not recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Virginia
      • Richmond, Virginia, United States, 23298
        • Virginia Commonwealth University
        • Principal Investigator:
          • Nicholas Johnson, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

The study seeks to enroll ambulatory individuals aged 6-50 years at enrollment who are clinically affected by LGMD, DM2, or LOPD.

Description

Inclusion Criteria:

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

Exclusion Criteria:

  1. 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
  2. Participation in a clinical trial receiving an investigational product

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
LGMD, DM2, LOPD

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline to 24 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies
Time Frame: Baseline to 24 months
The participant will be asked to complete 4 laps around 2 cones set 25 meters apart, as quickly and safely as possible, walking or running if able. The total time to complete the 4 laps is recorded in seconds.
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
Time Frame: Baseline to 24 months
The PUL 2.0 is a tool designed for assessing upper limb function in persons with neuromuscular disorders. It was developed as a conceptual framework reflecting the progression of weakness and natural history of functional decline in Duchenne Muscular Dystrophy (DMD). There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.
Baseline to 24 months
To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies
Time Frame: Baseline to 24 months
Spirometry is a breathing assessment comprised of: seated and supine forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and slow vital capacity (SVC). This assessment is performed using standardized equipment.
Baseline to 24 months
To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.
Time Frame: Baseline to 24 months
The LGMD Health Index (LGMD-HI) is a disease-specific, patient-reported measure that assesses overall health-related quality of life in LGMD.
Baseline to 24 months
To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.
Time Frame: Baseline to 24 months

The PROMIS-57 is a set of patient-reported measures developed by the NIH. The social health set of questions evaluates general social health by assessing ability to participate in social roles and activities, companionship, satisfaction with social roles and activities, social isolation, and social support.

The mental health set evaluates general mental health by assessing anxiety, depression, alcohol use, anger, cognitive function, life satisfaction, meaning and purpose, positive affect, psychosocial illness impact, self-efficacy for managing chronic conditions, smoking, and substance use.

The physical health set evaluates general physical health by assessing fatigue, pain intensity, pain interference, physical function, sleep disturbance, dyspnea, gastrointestinal symptoms, itch, pain behavior, pain quality, sexual function, and sleep related impairment.
Baseline to 24 months
To explore the utility of the Domain Delta as a patient-reported outcome measure in the muscular dystrophies
Time Frame: Baseline to 24 months
The Domain Delta questionnaire is a patient-reported outcome measure that assesses overall health over the previous 12 months.
Baseline to 24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Virginia Commonwealth University

Collaborators

Muscular Dystrophy Association

Investigators

  • Principal Investigator: Nicholas Johnson, MD, Virginia Commonwealth University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 18, 2023

Primary Completion (Estimated)

October 1, 2028

Study Completion (Estimated)

May 1, 2029

Study Registration Dates

First Submitted

August 2, 2023

First Submitted That Met QC Criteria

August 3, 2023

First Posted (Actual)

August 14, 2023

Study Record Updates

Last Update Posted (Actual)

February 8, 2024

Last Update Submitted That Met QC Criteria

February 6, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HM20027839

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the LGMD investigators.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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