Status:
RECRUITING
Modifying Factors in Striated Muscle Laminopathies
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Conditions:
Laminopathies
Emery Dreifuss Muscular Dystrophy 2
Eligibility:
All Genders
2+ years
Phase:
NA
Brief Summary
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 skelet...
Eligibility Criteria
Inclusion
- 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
- Pregnant or breastfeeding women
- Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).
Key Trial Info
Start Date :
September 8 2022
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 30 2027
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT05394506
Start Date
September 8 2022
End Date
December 30 2027
Last Update
February 10 2025
Active Locations (8)
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1
Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon
Bron, Auvergne-Rhône-Alpes, France, 69677
2
Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier
Montpellier, Hérault, France, 34295
3
Service de Génétique médicale, CHU Rennes
Rennes, Ille-et-Vilaine, France, 35000
4
Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes
Nantes, Loire-Atlantique, France, 44093