Ignite Creation Date:
2024-05-06 @ 9:44 AM
Last Modification Date:
2024-10-26 @ 12:18 PM
Study NCT ID:
NCT03058185
Status:
RECRUITING
Last Update Posted:
2023-12-20
First Post:
2017-02-15
Brief Title:
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies Observatory for PAtients With Laminopathies and Emerinopathies
Sponsor:
Pitié-Salpêtrière Hospital
Organization:
Pitié-Salpêtrière Hospital
Study Overview
Official Title:
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies Observatory for PAtients With Laminopathies and Emerinopathies
Status:
RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
OPALE
Brief Summary:
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 andor 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 1990s Until now precise phenotypegenotype 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 andor 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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None