Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD) (GRASP-01-001)
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ClinicalTrials.gov Identifier: NCT03981289 |
Recruitment Status :
Recruiting
First Posted : June 10, 2019
Last Update Posted : May 1, 2024
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Condition or disease |
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Limb Girdle Muscular Dystrophy Muscular Dystrophies |
The genetic heterogeneity has been a barrier to broad natural history efforts, with prior investigations often limited to single gene mutations. Much attention is paid to the variability within individual mutations (e.g. distal presentations), as opposed to defining the best strategy for measuring change in overall LGMD disease burden. This presents a major dilemma for LGMD rare disease research: how to balance diverse genes leading to overlapping phenotypes, versus variants in the same gene leading to divergent phenotypes. What is clear, is as a group, LGMDs are chronic and progressive leading to significant lifetime morbidity and represent a large unmet clinical need.
Recent developments in the investigator's genetic understanding of LGMD and molecular approaches to therapy have led to proposed gene replacement therapies for at least three of the LGMD mutations. Several of these gene replacement therapies are currently in pre-clinical/phase 1 testing, leading to an urgent need for natural history data. In addition, non-specific therapies which target muscle mass or function are being tested in other muscular dystrophies and may prove beneficial for LGMD.
Study Type : | Observational |
Estimated Enrollment : | 80 participants |
Observational Model: | Cohort |
Time Perspective: | Other |
Official Title: | GRASP-LGMD: Defining Clinical Endpoints in LGMD |
Actual Study Start Date : | June 14, 2019 |
Estimated Primary Completion Date : | June 30, 2025 |
Estimated Study Completion Date : | June 30, 2025 |
Group/Cohort |
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CAPN3 (LGMD2A)
Clinical Assessments, Biomarkers
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DYSF (LGMD2B)
Clinical Assessments, Biomarkers
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ANO5 (LGMD2L)
Clinical Assessments, Biomarkers
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DNAJB6 (LGMD1D)
Clinical Assessments, Biomarkers
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Sarcoglycan (LGMD2D) (LGMD2E) (LGMD2C) (LGMD2F)
Clinical assessments
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- Change in mobility [ Time Frame: Baseline to 12 months ]Mobility will be measured using the 100 Meter Timed Test (100m) in which the participant is asked to complete 2 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able, and the time in seconds is recorded.
- Change in motor performance [ Time Frame: Baseline to 12 months ]The North Star Assessment for Dysferlinopathy (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 North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.
- Change in upper limb function characteristics [ Time Frame: Baseline to 12 months ]The Performance of Upper Limb 2.0 (PUL) scale measures the progression of weakness and natural history of functional decline in Duchenne muscular dystrophy. There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.
- Change in workspace volume [ Time Frame: Baseline to 12 months ]Workspace volume (WSV) will be measured using ACTIVE, an interactive video game which will calculate the combination of upper extremity and trunk strength and function in cubic meters.
- Change in Forced vital capacity (FVC) [ Time Frame: Baseline to 12 months ]Volume of air forcefully exhaled will be measured using Spirometry performed in a sitting position using standardized equipment
- Changes in Forced expiratory volume (FEV1) [ Time Frame: Baseline to 12 months ]Volume of air forcefully exhaled in one second will be measured using Spirometry performed in a sitting position using standardized equipment
- Change in activity limitations [ Time Frame: Baseline to 12 months ]ACTIVLIM is a patient-reported measure of activity limitations for individuals with upper and/or lower limb impairments, which measures the ability to perform daily activities.
- Change in upper extremity disability [ Time Frame: Baseline to 12 months ]The Disabilities of the Arm, Shoulder, and Hand Questionnaire (DASH) questionnaire measures levels of disability in an individual's upper extremity.
- Change in self-reported physical health [ Time Frame: Baseline to 12 months ]PROMIS Physical Health is part of a set of patient-reported measures developed by a National Institute of Health that 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.
- Change in self-reported mental health [ Time Frame: Baseline to 12 months ]PROMIS Mental Health is part of a set of patient-reported measures developed by a National Institute of Health that 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
- Change in self-reported social health [ Time Frame: Baseline to 12 months ]PROMIS Social Health is part of a set of patient-reported measures developed by a National Institute of Health that 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.
- Change in whole body health [ Time Frame: Baseline to 12 months ]The Quality of Life in Genetic Neuromuscular Disease Questionnaire was developed to measure whole-body health impact in neuromuscular diseases.
- Change in overall health [ Time Frame: Baseline to 12 months ]Domain Delta Questionnaire is a patient reported measure that assesses overall health over the previous 12 months.
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Ages Eligible for Study: | 4 Years to 65 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria - Arm 1:
- Age between 4-65 at enrollment
- Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)
- A genetically or functionally confirmed mutation in ANO5, CAPN3, DYSF, DNAJB6 or SGCA-G.
- Willing and able to give informed consent and follow all study procedures and requirements
Inclusion Criteria - Arm 2:
- Age between 4-65 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 SGCA-G
- Willing and able to give informed consent and follow all study procedures and requirements
Exclusion Criteria - Arm 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.
- History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant.
- Positive pregnancy test at time any timepoint during the trial.
Exclusion Criteria - Arm 2:
- 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 at time any timepoint during the trial.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03981289
Contact: Ruby Langeslay | 804-828-8481 | Ruby.Langeslay@vcuhealth.org | |
Contact: Jennifer Raymond | 804-828-6318 | Jennifer.Raymond@vcuhealth.org |
United States, California | |
University of California Irvine | Recruiting |
Irvine, California, United States, 92697 | |
Contact: Isela Hernandez 714-509-2664 iselah@hs.uci.edu | |
Principal Investigator: Tahseen Mozaffar, MD | |
United States, Colorado | |
The University of Colorado Anschutz Medical Campus | Recruiting |
Aurora, Colorado, United States, 80045 | |
Contact: Alyssa Avilez alyssa.avilez@cuanschutz.edu | |
Contact: Brianna Blume 303-724-6386 brianna.blume@cuanschutz.edu | |
Principal Investigator: Stacy Dixon, MD | |
United States, Iowa | |
University of Iowa | Recruiting |
Iowa City, Iowa, United States, 52242 | |
Contact: Chandra Miller chandra-miller@uiowa.edu | |
Contact: Hanlong Fan hanlong-fan@uiowa.edu | |
Principal Investigator: Kathryn Mathews, MD | |
United States, Kansas | |
Kansas University Medical Center | Recruiting |
Kansas City, Kansas, United States, 66160 | |
Contact: Kaylene Whited 913-574-0009 kwhited2@kumc.edu | |
Contact: Rebecca Clay 913-945-9936 rclay@kumc.edu | |
Principal Investigator: Jeffrey Statland, MD | |
United States, Maryland | |
Kennedy Krieger Institute | Recruiting |
Baltimore, Maryland, United States, 21205 | |
Contact: Georgina DSanson Dsanson@kennedykrieger.org | |
Contact: Mary Yep 443-923-7318 Yep@kennedykrieger.org | |
Principal Investigator: Doris Leung, MD | |
United States, Minnesota | |
University of Minnesota | Recruiting |
Minneapolis, Minnesota, United States, 55455 | |
Contact: Allison Johnston 612-625-7184 joh21779@umn.edu | |
Contact: John Martone marto045@umn.edu | |
Principal Investigator: Peter B Kang, MD | |
United States, Missouri | |
Washington University School of Medicine | Recruiting |
Saint Louis, Missouri, United States, 63110 | |
Contact: Stephanie Hunn spoelker@wustl.edu | |
Contact: Olivia Money moneyo@wustl.edu | |
Principal Investigator: Conrad Weihl, MD | |
United States, Ohio | |
Nationwide Children's Hospital | Recruiting |
Columbus, Ohio, United States, 43205 | |
Contact: Audrey Beale 614-355-6872 audrey.beale@nationwidechildrens.org | |
Principal Investigator: Linda Lowes | |
United States, Virginia | |
Virginia Commonwealth University | Recruiting |
Richmond, Virginia, United States, 23298 | |
Contact: Nadia Hossain Nadia.Hossain@vcuhealth.org | |
Contact: Anarosa Rezeq anarosa.rezeq@vcuhealth.org | |
Principal Investigator: Nicholas Johnson, MD | |
United Kingdom | |
John Walton Muscular Dystrophy Research Centre (Newcastle upon Tyne) | Recruiting |
Newcastle Upon Tyne, United Kingdom | |
Contact: Dan Riseborough Dan.Riseborough@newcastle.ac.uk | |
Principal Investigator: Jordi Diaz-Manera, MD | |
Newcastle University | Recruiting |
Newcastle, United Kingdom | |
Contact: Nicola McLarty nicola.mclarty1@nhs.net | |
Contact: Dana Gergely dana.gergely@newcastle.ac.uk | |
Principal Investigator: Jordi Diaz-Manera, MD |
Principal Investigator: | Nicholas Johnson, MD | Virginia Commonwealth University |
Responsible Party: | Virginia Commonwealth University |
ClinicalTrials.gov Identifier: | NCT03981289 |
Other Study ID Numbers: |
HM20018721 GRASP-LGMD ( Other Identifier: Virginia Commonwealth University ) |
First Posted: | June 10, 2019 Key Record Dates |
Last Update Posted: | May 1, 2024 |
Last Verified: | April 2024 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Plan Description: | Aggregated and deidentified data will be shared with qualified investigators upon majority approval of the LGMD investigators |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
LGMD Limb Girdle Muscular Dystrophy CAPN3 ANO5 DYSF DNAJB6 |
Sarcoglycan SGCA SGCB SGCD SGCG |
Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Muscular Disorders, Atrophic Muscular Diseases |
Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases Genetic Diseases, Inborn |