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NCT Number: NCT05989620

Long-Term Development of Muscular Dystrophy Outcome Assessments

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).

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Key information

Conditions

LGMD1B Cardiomyopathies Cardiovascular Diseases Cobblestone Lissencephaly Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Heart Diseases Heredodegenerative Disorders, Nervous System LGMD1C LGMD1D LGMD1E LGMD1F LGMD1G LGMD1H LGMD2A LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F LGMD2G LGMD2I LGMD2J LGMD2K LGMD2L LGMD2M LGMD2N LGMD2O LGMD2P LGMD2Q LGMD2S LGMD2T LGMD2U LGMD2W LGMD2X LGMD2Y Limb-Girdle Muscular Dystrophy, Type 1G Limb-girdle muscular dystrophy type 2A Limb-girdle muscular dystrophy type 2F Limb-girdle muscular dystrophy, type 1B Limb-girdle muscular dystrophy, type 2B Limb-girdle muscular dystrophy, type 2C Limb-girdle muscular dystrophy, type 2E Lissencephaly Malformations of Cortical Development Malformations of Cortical Development, Group II Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Muscular Dystrophy, Limb-Girdle, Type 1C Muscular Dystrophy, Limb-Girdle, Type 1D Muscular Dystrophy, Limb-Girdle, Type 1E Muscular Dystrophy, Limb-Girdle, Type 1F Muscular Dystrophy, Limb-Girdle, Type 2G Muscular Dystrophy, Limb-Girdle, Type 2I Muscular Dystrophy, Limb-Girdle, Type 2J Muscular Dystrophy, Limb-Girdle, Type 2L Muscular Dystrophy, Limb-Girdle, Type 2M Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Respiration Disorders Respiratory Tract Diseases Sarcoglycanopathies Walker-Warburg Syndrome

Age range

6 year–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

Location status: Recruiting

Location contact

Levi Headrick

CONTACT

[email protected]

Nicholas Johnson, MD

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Jennifer Raymond

CONTACT

[email protected]

804-828-6318

Ruby Langeslay

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Virginia Commonwealth University

Other

Collaborators

  • Muscular Dystrophy Association

Registry information

Official study title

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

Acronym: GRASP-01-005

Important dates

Study start
2023
Primary completion
2028
Study completion
2029
First posted
Aug 14, 2023
Registry last updated
Nov 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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