Natural History Study in Patients With LGMDR5/2c

March 6, 2024 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

Not yet recruiting

Conditions

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

Observational

Enrollment (Estimated)

50

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 Backup

Study Locations

  • France
  • Tunisia
      • Sfax, Tunisia
        • Hedi Chaker Hospital Child Neurology Department
        • Contact:
      • Tunis, Tunisia
        • National Institute Mongi Ben Hmida of Neurology
        • Contact:

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

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

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

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

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 (Estimated)

April 1, 2024

Primary Completion (Estimated)

May 1, 2027

Study Completion (Estimated)

May 1, 2027

Study Registration Dates

First Submitted

January 8, 2024

First Submitted That Met QC Criteria

January 8, 2024

First Posted (Actual)

January 18, 2024

Study Record Updates

Last Update Posted (Actual)

March 7, 2024

Last Update Submitted That Met QC Criteria

March 6, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID 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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