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Completed

NCT Number: NCT03842878

Natural History Study 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.

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Key information

Conditions

LGMD2I Muscular Dystrophy, Limb-Girdle, Type 2I

Age range

16 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Pr John Vissing, Copenhagen, Denmark

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About this study

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

Who can participate

Healthy volunteers accepted: No

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

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

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

Treatment and study plan

Primary outcomes

  1. 6-Minute Walk Test

    Time frame: Baseline through 24 months

    Primary endpoint

  2. 10-Meter Walk test (10MWT)

    Time frame: Baseline through 24 months

    Primary endpoint

  3. Timed Up and Go (TUG) test

    Time frame: Baseline through 24 months

    Primary endpoint

  4. Four-stair climb test

    Time frame: Baseline through 24 months

    Primary endpoint

  5. North Star Assessment for Neuromuscular Disorders (NSAD)

    Time frame: Baseline through 24 months

    Scale to assess patient's abilities necessary to remain functionnaly ambulant

  6. Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0

    Time frame: Baseline through 24 months

    Primary endpoint

  7. Recording of aids for ambulation

    Time frame: Baseline through 24 months

    Primary endpoint

  8. Isokinetic muscle testing using the Biodex System (optional)

    Time frame: Baseline through 24 months

    Primary endpoint

  9. Pulmonary function test

    Time frame: Baseline through 24 months

    Primary endpoint

  10. Electrocardiogram

    Time frame: Baseline through 24 months

    Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated

  11. Echocardiography

    Time frame: Baseline through 24 months

    Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy

Sponsors and collaborators

Lead sponsor

Genethon

Other

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2023
Study completion
2023
First posted
Feb 15, 2019
Registry last updated
Feb 12, 2026

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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