Ignite Creation Date:
2024-05-05 @ 11:50 AM
Last Modification Date:
2024-10-26 @ 9:14 AM
Study NCT ID:
NCT00142363
Status:
TERMINATED
Last Update Posted:
2006-03-01
First Post:
2005-09-01
Brief Title:
Cohorts and Collections Clinical and Genetic Study of Parkinsons Disease and Epilepsies
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
The DNA and Cell Bank of IFR of Neurosciences Clinical and Genetic Study of Parkinsons Disease and Epilepsies
Status:
TERMINATED
Status Verified Date:
2006-02
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:
None
Brief Summary:
The DNA and Cell Bank of Instituts Federatifs de Recherche IFR of Neurosciences has been running for the last 15 years at the Institut National de la Santé Et de la Recherche Médicale INSERM Unit 679 former unit 289 Since its creation this structure has been the support of research projects in genetics for neurological and psychiatric disorders The cohorts established have led to discoveries in monogenic disorders such as cerebellar ataxias spastic paraplegias frontotemporal dementias epilepsies Parkinsons and Alzheimers disease Charcot-Marie-Tooth disease and related entities The research projects based on the study of the genetic bases in Parkinsons disease and epilepsies are especially developed for this grant
Concerning Parkinsons disease the project is based on the extension of the existing cohort throughout the French Parkinsons Disease Study Group network Concerning epilepsies this project is the occasion to build this network with the constitution of a new cohort
The specific aims of the scientific projects are the following for Parkinsons disease
to evaluate the frequency the nature and the phenotype associated with parkin mutations in familial or sporadic forms of the disease according to the age at onset and
to identify the genetic susceptibility factors in Parkinsons disease with the study of affected sibpairs and with casecontrols association studies
For epilepsies the aims are
to evaluate the frequency the nature and the phenotype associated with SCN1A SCNab and GABR2 gene mutations in familial or sporadic forms of the affection associated with febrile seizures and
to search for an intervention SCN1A SCN1B and GABRG2 as susceptible genes in these forms of epilepsies
Concerning Parkinsons disease the project is based on the extension of the existing cohort throughout the French Parkinsons Disease Study Group network Concerning epilepsies this project is the occasion to build this network with the constitution of a new cohort
The specific aims of the scientific projects are the following for Parkinsons disease
to evaluate the frequency the nature and the phenotype associated with parkin mutations in familial or sporadic forms of the disease according to the age at onset and
to identify the genetic susceptibility factors in Parkinsons disease with the study of affected sibpairs and with casecontrols association studies
For epilepsies the aims are
to evaluate the frequency the nature and the phenotype associated with SCN1A SCNab and GABR2 gene mutations in familial or sporadic forms of the affection associated with febrile seizures and
to search for an intervention SCN1A SCN1B and GABRG2 as susceptible genes in these forms of epilepsies
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None