Evaluating tools and markers for Charcot-Marie-Tooth Disease Type 1A
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
This study is trying to find out how Charcot-Marie-Tooth Disease Type 1A affects people differently by looking at various tests and markers in 60 patients over two years.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 80 (estimated) |
| Ages | 18 Years to 70 Years |
| Sex | All |
| Sponsor | Assistance Publique Hopitaux De Marseille Academic / other |
| Locations | 2 sites (Marseille and 1 other locations) |
| Trial ID | NCT02596191 on ClinicalTrials.gov |
What this trial studies
This study follows a cohort of 60 patients with Charcot-Marie-Tooth Disease Type 1A over two years to identify markers that explain the variability in disease presentation. It aims to discover predictive markers for disease progression and develop validated measurement tools for future clinical trials. The methodology includes clinical evaluations, electrophysiological recordings, muscle MRI, and blood sample analyses to gather comprehensive data on the patients' conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are patients diagnosed with Charcot-Marie-Tooth Disease Type 1A confirmed by genetic testing.
Not a fit: Patients with co-morbid conditions affecting peripheral neuropathy or significant progressive diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Charcot-Marie-Tooth Disease Type 1A, enhancing patient outcomes.
How similar studies have performed: Other studies focusing on biomarkers and outcome measures in neuromuscular diseases have shown promise, suggesting potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with CMT 1A disease * Diagnosis of CMT 1A confirmed by genotyping (duplication of the 17p11.2 region) Exclusion Criteria: * Patients suffering from co-morbidity at the origin of peripheral neuropathy (diabetes, hypothyroidism, renal insufficiency, drugs...) or muscle, articular, rheumatological disease * With HIV or cancer * With a significant progressive disease in the previous month * With a contra-indication for MRI * With a dislocation, fracture, or recent surgery (less than 6 months before inclusion) * with alcohol or psychoactive substances abuse * Treated by an anti-inflammatory drug over the past four weeks * Pregnant or breastfeeding women * Homeless patients
Where this trial is running
Marseille and 1 other locations
- Assistance Publique Hôpitaux de Marseille — Marseille, France (Recruiting)
- CHU Gui de Chauliac, CHU MONTPELLIER — Montpellier, France (Recruiting)
Study contacts
- Study coordinator: Shahram ATTARIAN, MD
- Email: shahram.attarian@ap-hm.fr
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.