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

• ClinicalTrials.gov Identifier: NCT03842878
• Recruitment Status: Recruiting
• First Posted: February 15, 2019
• Last Update Posted: February 26, 2020
• Sponsor: Genethon
• Information provided by (Responsible Party): Genethon

Tracking Information

• First Submitted Date: February 13, 2019
• First Posted Date: February 15, 2019
• Last Update Posted Date: February 26, 2020
• Actual Study Start Date: February 19, 2020
• 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

• 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

Recruitment Information

• Recruitment Status: 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: John Vissing, PR; +45 35452562 ext 1842; john.vissing@regionh.dk

• 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: February 2020