Improving diagnosis and understanding of myopathy linked to titin gene mutations
Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
University Hospital, Montpellier · NCT03998540
This study is trying to learn more about muscle problems caused by changes in the titin gene by looking at how these changes affect muscle function in patients who have had genetic testing.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Sex | All |
| Sponsor | University Hospital, Montpellier (other) |
| Locations | 1 site (Montpellier) |
| Trial ID | NCT03998540 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on patients with myopathy suspected to be caused by mutations in the titin gene (TTN). It aims to implement functional studies, including Western blot analyses and protein interaction studies, to evaluate the effects of TTN variants on muscle function and to establish phenotype-genotype correlations. By participating in national and international networks, the study seeks to enhance the understanding of titinopathies and their clinical implications. The research will involve patients who have undergone next-generation sequencing (NGS) to identify potentially pathogenic TTN variants.
Who should consider this trial
Good fit: Ideal candidates include children or adults diagnosed with congenital or progressive myopathy and identified with TTN variants through NGS.
Not a fit: Patients without muscle sampling or those who do not have identified TTN variants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic accuracy and better understanding of treatment options for patients with titin-related myopathies.
How similar studies have performed: While there are few teams internationally focusing on titinopathies, this approach is relatively novel in France, particularly the use of Western blot analyses for diagnosis.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Montpellier
- CHU Montpellier — Montpellier, France (RECRUITING)
Study contacts
- Study coordinator: Mireille COSSEE, MCU PH
- Email: mireille.cossee@inserm.fr
- Phone: 04 11 75 98 63
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Myopathy, Phenotypic Abnormality, Genetic Disease, titine, western blot