Scientists hunt for 'Modifier Genes' that explain why muscle disease varies so much
NCT ID NCT05394506
First seen Mar 23, 2026 · Last updated Jun 13, 2026 · Updated 12 times
Summary
This study aims to find genetic factors that explain why people with the same LMNA gene mutation can have very different muscle and heart symptoms. Researchers will collect small muscle or skin samples from 40 patients to analyze DNA, RNA, and proteins. The goal is to identify 'modifier genes' that make the disease milder or more severe, which could lead to better understanding and future treatments.
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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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