ClinicalTrials.gov record NCT05989620
Long-Term Development of Muscular Dystrophy Outcome Assessments
Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This 24-month observational study plans to enroll up to 1,000 ambulatory people aged 6–50 who are clinically affected by LGMD (various subtypes), DM2, or LOPD. Participants will have repeated functional tests, breathing tests, and patient questionnaires to evaluate standard clinical outcome assessments. The study does not assign experimental treatments.
What it is studying. Whether a set of standard clinical outcome assessments are suitable and feasible to measure motor, respiratory, and patient-reported health in people with LGMD subtypes, DM2, and LOPD. Measures named in the record include the North Star Assessment for LGMD (NSAD), 100‑meter timed test, Performance of the Upper Limb 2.0 (PUL 2.0), spirometry (FVC/FEV1/SVC), the LGMD Health Index (LGMD-HI), PROMIS-57, and the Domain Delta questionnaire.
What the researchers hope to learn. To define key clinical phenotypes and to evaluate the suitability and utility of specific clinical outcome assessments for LGMD, DM2, and LOPD. The data aim to support standardized measures that can be used in future research and trials.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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).
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants attend study visits over up to 24 months for clinical assessments and functional tests. Typical activities include completing the North Star Assessment for LGMD (NSAD), a 100‑metre timed walking/running test, upper‑limb function testing (PUL 2.0), and breathing tests (spirometry, seated and supine FVC). Participants will also complete patient‑reported questionnaires such as the LGMD‑HI, PROMIS‑57, and the Domain Delta. The study is observational — no investigational treatments are assigned.
How the study is structured. An observational, single-group cohort followed for 24 months. Participants return for repeated assessments from baseline to 24 months, including functional tests (e.g., NSAD, 100‑meter), upper-limb testing (PUL 2.0), breathing tests (spirometry), and several patient-reported questionnaires. No study-assigned treatments are given.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- Oct 18, 2023
- Primary completion
- Oct 1, 2028 (estimated)
- Study completion
- May 1, 2029 (estimated)
- Target enrollment
- 1000 participants (estimated)
- Last updated on registry
- Nov 18, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Virginia Commonwealth University
- Collaborators
- Muscular Dystrophy Association
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Jennifer Raymond 📞 804-828-6318 ✉ Jennifer.Raymond@vcuhealth.org
- Ruby Langeslay ✉ Ruby.Langeslay@vcuhealth.org
Participating sites (1)
- Virginia Commonwealth UniversityRecruiting
Richmond, Virginia, 23298 · United States
- Levi Headrick · levi.headrick@vcuhealth.org
- Nicholas Johnson, MD
Terms used on this page · explanations by MedicalUpdates.ai
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- FVC
- A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
- clinical trial
- A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
- investigational product
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- cohort
- A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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