Scientists hunt for hidden genes that make some muscle diseases less severe
NCT ID NCT05394506
First seen Mar 23, 2026 · Last updated Apr 25, 2026 · Updated 4 times
Summary
This study looks at people with LMNA gene mutations that cause muscle and heart problems. Researchers want to find out why some patients have mild symptoms while others have severe disease. They will collect muscle and skin samples and use advanced genetic techniques to identify modifier genes. The goal is to better understand the disease, not to test a new treatment.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon
RECRUITINGBron, Auvergne-Rhône-Alpes, 69677, France
Contact Email: •••••@•••••
Contact Email: •••••@•••••
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Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière
RECRUITINGParis, France, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Email: •••••@•••••
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Centre de référence pour les maladies cardiaques héréditaires
RECRUITINGParis, Paris, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes
NOT_YET_RECRUITINGNantes, Loire-Atlantique, 44093, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Service de Génétique médicale, CHU Rennes
NOT_YET_RECRUITINGRennes, Ille-et-Vilaine, 35000, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest
NOT_YET_RECRUITINGGarches, Île-de-France Region, 92380, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier
NOT_YET_RECRUITINGMontpellier, Hérault, 34295, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Service de cardiologie & Service de Neurophysiologie - CHU de Rouen
RECRUITINGRouen, Normandy, 76031, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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