Natural History Study in Patients With LGMDR5/2c

NCT06210672 | Withdrawn

• 1 other identifier: ATA-002-GSAR
• Study Type: observational
• Target: N/A
• Locations: 2 countries
• Sites: 3

Brief Summary

Prospective, longitudinal, interventional, multicenter natural history study to better understand the LGMDR5/2c disease physiopathology. The duration of participation for each patient will be up to 24 months.

Conditions

Gamma-sarcoglycanopathy

Outcome Measures

Primary Outcomes (4)

• North Star Assessment for Neuromuscular Disorders (NSAD)

  Change from baseline in NSAD score (with a score range from 0 to 54, the higher the score the better the ability)

  Baseline through 24 months

• Performance of Upper Limb (PUL)

  Change from baseline in PUL score (with a score range from 0 to 42, the higher the score the better the ability)

  Baseline through 24 months

• Timed Up and Go (TUG)

  Change from baseline in time to complete TUG

  Baseline through 24 months

• 100-meter walk/run test (100MWT)

  Change from baseline in time to complete 100MWT

  Baseline through 24 months

Secondary Outcomes (3)

• Forced Vital Capacity (FVC)

  Baseline through 24 months

• Muscle MRI

  Baseline though 24 months

• Change from baseline in Activlim score

  Baseline through 24 months

Eligibility Criteria

• Age: 6 Years - 35 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study will enroll 30 ambulant pediatric patients less than 12 years of age (cohort 1) and 20 non-ambulant adolescent or young adults less than 35 years of age (cohort 2)

You may qualify if:

• Male and female patients 6 to less than 35 years of age
• Ambulant patients should be less than 12 years of age and able to walk/run 10 meters (item 29 of NSAD) in less than 15 sec
• Confirmed diagnosis of LGMDR5 (genotyping)
• FVC \> 40%

You may not qualify if:

• Subjects with co-morbidity which may interfere with LGMDR5 natural evolution and/or evaluation of outcome measures
• Need of non-invasive ventilation \> 16h per 24h or any invasive ventilation
• Left ventricular ejection fraction (LVEF) \< 30% or prior heart failure decompensation requiring hospitalization
• Past participation in a gene therapy or cell therapy trial

Sponsors & Collaborators

• Atamyo Therapeutics: lead

Study Sites (3)

Hopital Raymond Poincare

Garches, 92380, France

Location

Hedi Chaker Hospital Child Neurology Department

Sfax, Tunisia

Location

National Institute Mongi Ben Hmida of Neurology

Tunis, Tunisia

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum, plasma, and urine

MeSH Terms

Conditions

Limb-girdle muscular dystrophy, type 2C

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 8, 2024
• First Posted: January 18, 2024
• Study Start: January 10, 2025
• Primary Completion: September 1, 2025
• Study Completion: September 1, 2025
• Last Updated: October 6, 2025

Record last verified: 2025-10

Locations

FR (1); TU (2)