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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 : November 21, 2019
Sponsor:
Information provided by (Responsible Party):
Genethon

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.

Condition or disease
LGMD2I

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


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Study Type : Observational
Estimated Enrollment : 60 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 : September 13, 2019
Estimated Primary Completion Date : April 30, 2022
Estimated Study Completion Date : April 30, 2022





Primary Outcome Measures :
  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


Biospecimen Retention:   Samples Without DNA
Blood and urine


Information from the National Library of Medicine

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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
Study Population
Female and male patients ≥ 16 years old
Criteria

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


Information from the National Library of Medicine

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


Locations
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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
Sponsors and Collaborators
Genethon
Investigators
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Principal Investigator: John Vissing, PR Professor of neurology

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Responsible Party: Genethon
ClinicalTrials.gov Identifier: NCT03842878     History of Changes
Other Study ID Numbers: GNT-015-FKRP
First Posted: February 15, 2019    Key Record Dates
Last Update Posted: November 21, 2019
Last Verified: November 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn