New study aims to map rare muscle disease progression
NCT ID NCT06210672
First seen Jun 27, 2026 ยท Last updated Jun 27, 2026
Summary
This study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to better understand the disease to help design future treatments. However, the study was withdrawn before enrolling any participants.
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Study facts
What this study's own registry entry says, in plain language.
- Started
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Jan 2025
- Finished
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Sep 2025
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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)
- Ages
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6 to 35 years
- Sex
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Anyone
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hedi Chaker Hospital Child Neurology Department
Sfax, Tunisia
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Hopital Raymond Poincare
Garches, 92380, France
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National Institute Mongi Ben Hmida of Neurology
Tunis, Tunisia