Natural History Study in Patients With LGMDR5/2c

Gamma-sarcoglycanopathy Clinical Trial

Official title:

A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06210672
• Other study ID #: ATA-002-GSAR
• Status: Not yet recruiting
• Start date: April 1, 2024
• Est. completion date: May 1, 2027

Study information

• Verified date: March 2024
• Source: Atamyo Therapeutics
• Contact: Damien Bouvier, Msc
• Phone: +33972662469
• Email: d.bouvier[@]atamyo.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: May 1, 2027
• Est. primary completion date: May 1, 2027
• Gender: All
• Age group: 6 Years to 35 Years

Eligibility

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

Related Conditions & MeSH terms

• Gamma-sarcoglycanopathy

Locations

Country	Name	City	State
France	Hopital Raymond Poincare	Garches
Tunisia	Hedi Chaker Hospital Child Neurology Department	Sfax
Tunisia	National Institute Mongi Ben Hmida of Neurology	Tunis

Sponsors (1)

Lead Sponsor	Collaborator
Atamyo Therapeutics

Countries where clinical trial is conducted

France,  Tunisia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	Timed Up and Go (TUG)	Change from baseline in time to complete TUG	Baseline through 24 months
Primary	100-meter walk/run test (100MWT)	Change from baseline in time to complete 100MWT	Baseline through 24 months
Secondary	Forced Vital Capacity (FVC)	Percent change from baseline in FVC	Baseline through 24 months
Secondary	Muscle MRI	Change from baseline in Fat fraction in thigh and leg skeletal muscles	Baseline though 24 months
Secondary	Change from baseline in Activlim score	Scale measuring level of limitation in performing daily activities (total score ranging from 0 to 44, with the lower score with highest limitation)	Baseline through 24 months