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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 : Not yet recruiting
First Posted : February 15, 2019
Last Update Posted : February 15, 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 FPFV to 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
Estimated Study Start Date : April 2019
Estimated Primary Completion Date : April 30, 2022
Estimated Study Completion Date : April 30, 2022





Primary Outcome Measures :
  1. Primary Endpoint :6-Minute Walk Test [ Time Frame: Baseline through 24 months ]
    6-Minute Walk Test


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


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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: February 15, 2019
Last Verified: February 2019

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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