Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
1 other identifier
observational
52
3 countries
3
Brief Summary
Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Feb 2020
Typical duration for all trials
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 13, 2019
CompletedFirst Posted
Study publicly available on registry
February 15, 2019
CompletedStudy Start
First participant enrolled
February 19, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 14, 2023
CompletedStudy Completion
Last participant's last visit for all outcomes
December 14, 2023
CompletedFebruary 12, 2026
June 1, 2024
3.8 years
February 13, 2019
February 10, 2026
Conditions
Outcome Measures
Primary Outcomes (11)
6-Minute Walk Test
Primary endpoint
Baseline through 24 months
10-Meter Walk test (10MWT)
Primary endpoint
Baseline through 24 months
Timed Up and Go (TUG) test
Primary endpoint
Baseline through 24 months
Four-stair climb test
Primary endpoint
Baseline through 24 months
North Star Assessment for Neuromuscular Disorders (NSAD)
Scale to assess patient's abilities necessary to remain functionnaly ambulant
Baseline through 24 months
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0
Primary endpoint
Baseline through 24 months
Recording of aids for ambulation
Primary endpoint
Baseline through 24 months
Isokinetic muscle testing using the Biodex System (optional)
Primary endpoint
Baseline through 24 months
Pulmonary function test
Primary endpoint
Baseline through 24 months
Electrocardiogram
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Baseline through 24 months
Echocardiography
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Baseline through 24 months
Eligibility Criteria
Female and male patients ≥ 16 years old
You may qualify if:
- 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
You may not qualify if:
- \. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Genethonlead
Study Sites (3)
Pr John Vissing
Copenhagen, DK-2100, Denmark
Dr Tanya Stojkovic
Paris, 75013, France
Pr Volker Straub
Newcastle, NE1 3BZ, United Kingdom
Biospecimen
Blood and urine
MeSH Terms
Conditions
Study Officials
- PRINCIPAL INVESTIGATOR
John Vissing, PR
Professor of neurology
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 13, 2019
First Posted
February 15, 2019
Study Start
February 19, 2020
Primary Completion
December 14, 2023
Study Completion
December 14, 2023
Last Updated
February 12, 2026
Record last verified: 2024-06