Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
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ClinicalTrials.gov Identifier: NCT03842878 |
Recruitment Status :
Active, not recruiting
First Posted : February 15, 2019
Last Update Posted : January 5, 2022
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Condition or disease |
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LGMD2I |
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years
Study objectives Primary objective:
To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations.
Secondary objectives:
To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches
Study Type : | Observational |
Actual Enrollment : | 52 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I |
Actual Study Start Date : | February 19, 2020 |
Estimated Primary Completion Date : | December 30, 2023 |
Estimated Study Completion Date : | December 30, 2023 |

- 6-Minute Walk Test [ Time Frame: Baseline through 24 months ]Primary endpoint
- 10-Meter Walk test (10MWT) [ Time Frame: Baseline through 24 months ]Primary endpoint
- Timed Up and Go (TUG) test [ Time Frame: Baseline through 24 months ]Primary endpoint
- Four-stair climb test [ Time Frame: Baseline through 24 months ]Primary endpoint
- North Star Assessment for Neuromuscular Disorders (NSAD) [ Time Frame: Baseline through 24 months ]Scale to assess patient's abilities necessary to remain functionnaly ambulant
- Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0 [ Time Frame: Baseline through 24 months ]Primary endpoint
- Recording of aids for ambulation [ Time Frame: Baseline through 24 months ]Primary endpoint
- Isokinetic muscle testing using the Biodex System (optional) [ Time Frame: Baseline through 24 months ]Primary endpoint
- Pulmonary function test [ Time Frame: Baseline through 24 months ]Primary endpoint
- Electrocardiogram [ Time Frame: Baseline through 24 months ]Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
- Echocardiography [ Time Frame: Baseline through 24 months ]Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Biospecimen Retention: Samples Without DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 16 Years to 99 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Female and male patients
- Patients ≥ 16 years old
- Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
- Ambulant patients
Exclusion Criteria:
1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history

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): NCT03842878
Denmark | |
Pr John Vissing | |
Copenhagen, Denmark, DK-2100 | |
France | |
Dr Tanya Stojkovic | |
Paris, France, 75013 | |
United Kingdom | |
Pr Volker Straub | |
Newcastle, United Kingdom, NE1 3BZ |
Principal Investigator: | John Vissing, PR | Professor of neurology |
Responsible Party: | Genethon |
ClinicalTrials.gov Identifier: | NCT03842878 |
Other Study ID Numbers: |
GNT-015-FKRP |
First Posted: | February 15, 2019 Key Record Dates |
Last Update Posted: | January 5, 2022 |
Last Verified: | May 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Muscular Disorders, Atrophic Muscular Diseases |
Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases Genetic Diseases, Inborn |