Exploring factors in muscle diseases caused by LMNA gene mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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 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 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

Study contacts

• Study coordinator: Gisele Bonne, Phd
• Email: g.bonne@institut-myologie.org
• Phone: +33142165724

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.