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Modifying Factors in Striated Muscle Laminopathies

RecruitingNAAges 2 Years - anyAllInstitut National de la Santé Et de la Recherche …
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In plain words

What the trial is, and whether it could suit you

Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity hav

Sign in to get the eligibility rules as simple questions to take to your doctor.

📋 Eligibility rules (as published)
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).
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What it tests

  • Skin Biopsy
  • Muscle biopsy
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Where

8 sites
Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon
Bron, France
Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière
Paris, France
Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier
Montpellier, France
Service de Génétique médicale, CHU Rennes
Rennes, France
Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes
Nantes, France
Service de cardiologie & Service de Neurophysiologie - CHU de Rouen
Rouen, France
Centre de référence pour les maladies cardiaques héréditaires
Paris, France
Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest
Garches, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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