Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · Jun 24, 2019

Keywords

ClinConnect Summary

This clinical trial is focused on understanding a specific genetic condition called titinopathy, which can cause muscle weakness and other related issues. Researchers are studying how changes in the TTN gene affect patients with myopathy (a type of muscle disease). By using advanced genetic testing, they have found several potentially harmful changes in this gene among patients. The goal of the trial is to perform various tests to see how these genetic changes impact the body, and to better understand the relationship between the genetic changes and the symptoms patients experience.

To participate in this trial, individuals must be patients of a neurologist and have been diagnosed with myopathy, either from birth or that progresses over time. They also need to have had a muscle biopsy and show specific genetic changes in the TTN gene. Participants will be involved in tests that might include taking samples of their muscle tissue and possibly undergoing other types of assessments to help researchers learn more about this condition. This research is important as it could lead to improved treatments for those affected by titinopathies in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patient followed by a neurologist or a pediatric neurologist.
• • Child or adult with congenital or progressive, proximal or distal myopathy
• • Identification by NGS analysis of variant(s) in the potentially pathogenic TTN gene(s)
• • Muscle biopsy performed previously
• • Collection of the patient's (or one of his legal representatives if minor) non-opposition to participate in the present study and for the collection of the necessary biological material (muscle)
• • Patient affiliated to or benefiting from a social security scheme
• Exclusion Criteria:
• • Absence of muscle sampling