Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I

February 10, 2026 updated by: Genethon

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I

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.

Study Overview

Status

Completed

Conditions

Detailed Description

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

Enrollment (Actual)

52

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
      • Copenhagen, Denmark, DK-2100
        • Pr John Vissing
  • France
      • Paris, France, 75013
        • Dr Tanya Stojkovic
  • United Kingdom
      • Newcastle, United Kingdom, NE1 3BZ
        • Pr Volker Straub

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years to 99 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Female and male patients ≥ 16 years old

Description

Inclusion Criteria:

  1. Female and male patients
  2. Patients ≥ 16 years old
  3. Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
  4. Ambulant patients

Exclusion Criteria:

1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
6-Minute Walk Test
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
10-Meter Walk test (10MWT)
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Timed Up and Go (TUG) test
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Four-stair climb test
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
North Star Assessment for Neuromuscular Disorders (NSAD)
Time Frame: Baseline through 24 months
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
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Recording of aids for ambulation
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Isokinetic muscle testing using the Biodex System (optional)
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Pulmonary function test
Time Frame: Baseline through 24 months
Primary endpoint
Baseline through 24 months
Electrocardiogram
Time Frame: Baseline through 24 months
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Baseline through 24 months
Echocardiography
Time Frame: Baseline through 24 months
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Baseline through 24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Genethon

Investigators

  • Principal Investigator: John Vissing, PR, Professor of Neurology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 19, 2020

Primary Completion (Actual)

December 14, 2023

Study Completion (Actual)

December 14, 2023

Study Registration Dates

First Submitted

February 13, 2019

First Submitted That Met QC Criteria

February 14, 2019

First Posted (Actual)

February 15, 2019

Study Record Updates

Last Update Posted (Actual)

February 12, 2026

Last Update Submitted That Met QC Criteria

February 10, 2026

Last Verified

June 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GNT-015-FKRP

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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