Exploring factors in muscle diseases caused by LMNA gene mutations
Identification of Genetic Modifying Factors in Striated Muscle Laminopathies
This study is trying to understand how changes in the LMNA gene affect muscle and heart problems in patients, to help improve their treatment.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 40 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 8 sites (Bron, Auvergne-Rhône-Alpes and 7 other locations) |
| Trial ID | NCT05394506 on ClinicalTrials.gov |
What this trial studies
This study investigates the clinical variability and genetic factors associated with laminopathies, particularly those affecting striated muscles due to mutations in the LMNA gene. It aims to analyze patients with these mutations who exhibit symptoms such as muscle weakness and cardiac involvement. The methodology includes skin and muscle biopsies to gather data on the genotype-phenotype relationships and the severity of the conditions. By understanding these factors, the study seeks to provide insights into the management of these complex muscular dystrophies.
Who should consider this trial
Good fit: Ideal candidates include patients with an LMNA mutation diagnosed with laminopathy affecting striated muscle and exhibiting related symptoms.
Not a fit: Patients without an LMNA mutation or those not exhibiting symptoms of laminopathy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of laminopathies, potentially enhancing patient outcomes.
How similar studies have performed: While there have been studies on LMNA mutations, this specific approach to understanding modifier factors in laminopathies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with an LMNA mutation that has led to the diagnosis of laminopathy affecting striated muscle * Presenting the symptoms of the disease, whether they are index cases or related to this index case (muscle weakness, tendon retractions with or without respiratory or cardiac involvement) * Have no contraindication to muscle or skin biopsy, i.e., 1) presence of a history of allergy to latex, antiseptics, local anesthetics and adhesive dressings, 2) Current oral or parenteral anticoagulant therapy (anti-vitamin K, heparins, anti-platelet agents, anti-factor X, anti-thrombin), 3) History of inherited (haemophilias, platelet diseases) or acquired (vitamin K deficiency, liver failure) coagulation disorders. * Patients (adult participant) or both holders of parental authority (minor participant) must sign a free and informed consent. If a minor has only 1 legal representative, the latter must attest to this on the consent form. * Patients affiliated to the general French social security system, to the French Universal Medical Coverage (CMU) or to any French equivalent scheme. Exclusion Criteria: * Pregnant or breastfeeding women * Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).
Where this trial is running
Bron, Auvergne-Rhône-Alpes and 7 other locations
- Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon — Bron, Auvergne-Rhône-Alpes, France (Recruiting)
- Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière — Paris, France, France (Recruiting)
- Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier — Montpellier, Hérault, France (Not_yet_recruiting)
- Service de Génétique médicale, CHU Rennes — Rennes, Ille-et-Vilaine, France (Not_yet_recruiting)
- Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes — Nantes, Loire-Atlantique, France (Not_yet_recruiting)
- Service de cardiologie & Service de Neurophysiologie - CHU de Rouen — Rouen, Normandy, France (Recruiting)
- Centre de référence pour les maladies cardiaques héréditaires — Paris, Paris, France (Recruiting)
- Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest — Garches, Île-de-France Region, France (Not_yet_recruiting)
Study contacts
- Study coordinator: Gisele Bonne, Phd
- Email: g.bonne@institut-myologie.org
- Phone: +33142165724
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.