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Trial record 61 of 104 for:    Recruiting, Not yet recruiting, Available Studies | "Muscular Dystrophies"

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03842878
Recruitment Status : Not yet recruiting
First Posted : February 15, 2019
Last Update Posted : February 15, 2019
Information provided by (Responsible Party):

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

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

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 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