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Trial record 2 of 8 for:    LGMD2I

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. Read our disclaimer for details.
 
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

Tracking Information
First Submitted Date February 13, 2019
First Posted Date February 15, 2019
Last Update Posted Date November 21, 2019
Actual Study Start Date September 13, 2019
Estimated Primary Completion Date April 30, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 22, 2019)
  • 6-Minute Walk Test [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • 10-Meter Walk test (10MWT) [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Timed Up and Go (TUG) test [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Four-stair climb test [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • North Star Assessment for Neuromuscular Disorders (NSAD) [ Time Frame: Baseline through 24 months ]
    Scale to assess patient's abilities necessary to remain functionnaly ambulant
  • Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0 [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Recording of aids for ambulation [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Isokinetic muscle testing using the Biodex System (optional) [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Pulmonary function test [ Time Frame: Baseline through 24 months ]
    Primary endpoint
  • Electrocardiogram [ Time Frame: Baseline through 24 months ]
    Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
  • Echocardiography [ Time Frame: Baseline through 24 months ]
    Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Original Primary Outcome Measures
 (submitted: February 14, 2019)
Primary Endpoint :6-Minute Walk Test [ Time Frame: Baseline through 24 months ]
6-Minute Walk Test
Change History Complete list of historical versions of study NCT03842878 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
Official Title Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples Without DNA
Description:
Blood and urine
Sampling Method Non-Probability Sample
Study Population Female and male patients ≥ 16 years old
Condition LGMD2I
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: February 14, 2019)
60
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 30, 2022
Estimated Primary Completion Date April 30, 2022   (Final data collection date for primary outcome measure)
Eligibility 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

Sex/Gender
Sexes Eligible for Study: All
Ages 16 Years to 99 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Denmark,   France,   United Kingdom
Removed Location Countries Germany
 
Administrative Information
NCT Number NCT03842878
Other Study ID Numbers GNT-015-FKRP
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Genethon
Study Sponsor Genethon
Collaborators Not Provided
Investigators
Principal Investigator: John Vissing, PR Professor of neurology
PRS Account Genethon
Verification Date November 2019