Gamma-sarcoglycanopathyNCT06210672
Natural History Study in Patients With LGMDR5/2c
An observational study of Gamma-sarcoglycanopathy, run by Atamyo Therapeutics at 3 sites in 2 countries.
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. Read more about this study
- Who is it for?
- Ages 6 to 35 years
- Conditions the study is for
- Gamma-sarcoglycanopathy
- How many people
- 0 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 10 Jan 2025to 1 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 35 years
- All sexes
- Child, Adult
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)
Who may be able to join
- 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%
Who cannot join
- 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
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
Tunisia2 sites
Hedi Chaker Hospital Child Neurology Department
Sfax
National Institute Mongi Ben Hmida of Neurology
Tunis
About this study
Official title: A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)
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.
Read the detailed 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
- Conditions
- Gamma-sarcoglycanopathy
- Medical subject headings
- Limb-girdle muscular dystrophy, type 2C
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 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)
Measured: Baseline through 24 months
Timed Up and Go (TUG)
Change from baseline in time to complete TUG
Measured: Baseline through 24 months
100-meter walk/run test (100MWT)
Change from baseline in time to complete 100MWT
Measured: Baseline through 24 months
Secondary outcomes (3)
Forced Vital Capacity (FVC)
Percent change from baseline in FVC
Measured: Baseline through 24 months
Muscle MRI
Change from baseline in Fat fraction in thigh and leg skeletal muscles
Measured: Baseline though 24 months
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)
Measured: Baseline through 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2024
- Study start10 Jan 2025
- Primary completion1 Sep 2025
- Study completion1 Sep 2025
Why it stopped: lack of financing
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gamma-sarcoglycanopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Atamyo Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06210672
- Sponsor's protocol ID
- ATA-002-GSAR
- Status last verified
- Oct 2025
- First submitted
- 8 Jan 2024
- Last updated
- 6 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)
- ClinicalTrials.gov ID
- NCT06210672
- Acronym / sponsor ID
- ATA-002-GSAR
- Conditions
- Gamma-sarcoglycanopathy
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: lack of financing
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Atamyo TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 10 Jan 2025 (actual)
- Primary completion
- 1 Sep 2025 (actual)
- Study completion
- 1 Sep 2025 (actual)
- First posted
- 18 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 to 35 years
- Sex
- All
- Age groups
- Child, Adult
- 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)
Key inclusion criteria (4 listed)
- 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%
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
North Star Assessment for Neuromuscular Disorders (NSAD)
Time frame: Baseline through 24 months
Change from baseline in NSAD score (with a score range from 0 to 54, the higher the score the better the ability)
Performance of Upper Limb (PUL)
Time frame: Baseline through 24 months
Change from baseline in PUL score (with a score range from 0 to 42, the higher the score the better the ability)
Timed Up and Go (TUG)
Time frame: Baseline through 24 months
Change from baseline in time to complete TUG
100-meter walk/run test (100MWT)
Time frame: Baseline through 24 months
Change from baseline in time to complete 100MWT
3 secondary outcomes
Forced Vital Capacity (FVC)
Time frame: Baseline through 24 months
Muscle MRI
Time frame: Baseline though 24 months
Change from baseline in Activlim score
Time frame: Baseline through 24 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gamma-sarcoglycanopathy, run by Atamyo Therapeutics at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 6 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Tunisia, France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
North Star Assessment for Neuromuscular Disorders (NSAD) (time frame: Baseline through 24 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2025.