Laminopathies Clinical Trial
— OPALEOfficial title:
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and/or cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these diseases since the 1990's. Until now, precise phenotype/genotype relations remain elusive. As for several other neuromuscular disorders, apart from symptomatic treatments, there is currently no specific treatment to prevent or slow down the progression of the disease. The OPALE registry is a multicentre web-based registry dedicated to laminopathy and emerinopathy French patients. OPALE has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic LMNA and/or EMD gene mutation. The OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.
| Status | Recruiting |
| Enrollment | 800 |
| Est. completion date | July 11, 2033 |
| Est. primary completion date | July 11, 2033 |
| Accepts healthy volunteers | |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: - Presence of a proven pathogenic LMNA and/or EMD gene mutation - Regular followup in France. - Signed informed consent Exclusion Criteria: -Signed informed refusal |
| Country | Name | City | State |
|---|---|---|---|
| France | Centre de référence maladies neuromusculaires,CHU d'Angers | Angers | |
| France | CHU Bordeaux | Bordeaux | Gironde |
| France | CHU Caen | Caen | Normandie |
| France | Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré | Garches | Yvelines |
| France | Centre de référence des maladies neuromusculaires, CHRU Lille | Lille | |
| France | Centre de référence des maladies neuromusculaires, CHU Lyon | Lyon | |
| France | CHU Marseille | Marseille | Bouches-du-Rhône |
| France | Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière | Paris | |
| France | Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau | Paris | |
| France | Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades | Paris | Ile De France |
| France | Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine | Paris | |
| France | Service de cardiologie, Hôpital Cochin | Paris |
| Lead Sponsor | Collaborator |
|---|---|
| Pitié-Salpêtrière Hospital |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression | Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression | yearly up to 10 years |
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05394506 -
Modifying Factors in Striated Muscle Laminopathies
|
N/A |