Scientists hunt for hidden genes that shape rare muscle disease
NCT ID NCT05394506
Summary
This study aims to discover why people with the same genetic mutation for a rare muscle and heart disease (laminopathy) can have very different symptoms and disease progression. Researchers will collect small tissue samples from 40 patients in France who have an LMNA gene mutation. By analyzing these samples with advanced lab techniques, they hope to find other genes that make the disease milder or more severe.
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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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