Natural History Study in Patients With LGMDR5/2c

Atamyo Therapeutics

Overview

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.

Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years. Each patient will have a visit every 6 months over 2 years (5 visits in total). Study primary objective is to characterize the disease course in gamma-sarcoglycanopathy (LGMDr5/2c) patients using standardized and disease appropriate evaluations. Secondary objectives are to identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2c and to identify the best outcome measure for further therapeutics approaches

Study Type

OBSERVATIONAL

Conditions

Gamma-sarcoglycanopathy

Eligibility

Sex: ALLMin age: 6 YearsMax age: 35 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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% Exclusion Criteria: * 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

Locations (3)

Hopital Raymond Poincare

Garches, France

Hedi Chaker Hospital Child Neurology Department

Sfax, Tunisia

National Institute Mongi Ben Hmida of Neurology

Tunis, Tunisia

Outcomes

Primary Outcomes

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)