Natural History Study in Patients With LGMDR5/2c

October 1, 2025 updated by: Atamyo Therapeutics

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Withdrawn

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • France
      • Garches, France, 92380
        • Hôpital Raymond Poincaré
  • Tunisia
      • Sfax, Tunisia
        • Hedi Chaker Hospital Child Neurology Department
      • Tunis, Tunisia
        • National Institute Mongi Ben Hmida of Neurology

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

N/A

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)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Timed Up and Go (TUG)
Time Frame: Baseline through 24 months
Change from baseline in time to complete TUG
Baseline through 24 months
100-meter walk/run test (100MWT)
Time Frame: Baseline through 24 months
Change from baseline in time to complete 100MWT
Baseline through 24 months
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)
Baseline through 24 months
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)
Baseline through 24 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Forced Vital Capacity (FVC)
Time Frame: Baseline through 24 months
Percent change from baseline in FVC
Baseline through 24 months
Muscle MRI
Time Frame: Baseline though 24 months
Change from baseline in Fat fraction in thigh and leg skeletal muscles
Baseline though 24 months
Change from baseline in Activlim score
Time Frame: Baseline through 24 months
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Atamyo Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
January 10, 2025

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 1, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 8, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 8, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 18, 2024

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
October 6, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 1, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
October 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • ATA-002-GSAR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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