Condition: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
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 have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes". Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic …
This description comes directly from the study's public registry record.
Gisele Bonne, Phd · +33142165724 · g.bonne@institut-myologie.org
Rabah Ben Yaou, MD · +33142165735 · r.benyaou@institut-myologie.org
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| Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon | Bron, Auvergne-Rhône-Alpes, France | Recruiting |
| Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière | Paris, France, France | Recruiting |
| Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier | Montpellier, Hérault, France | Not Yet Recruiting |
| Service de Génétique médicale, CHU Rennes | Rennes, Ille-et-Vilaine, France | Not Yet Recruiting |
| Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes | Nantes, Loire-Atlantique, France | Not Yet Recruiting |
| Service de cardiologie & Service de Neurophysiologie - CHU de Rouen | Rouen, Normandy, France | Recruiting |
| Centre de référence pour les maladies cardiaques héréditaires | Paris, Paris, France | Recruiting |
| Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest | Garches, Île-de-France Region, France | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT05394506