Ignite Creation Date:
2024-05-05 @ 11:48 AM
Last Modification Date:
2024-10-26 @ 9:13 AM
Study NCT ID:
NCT00136721
Status:
UNKNOWN
Last Update Posted:
2007-12-04
First Post:
2005-08-26
Brief Title:
Parkin Mutations and Their Functional Consequences
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:
Parkin Mutations and Their Functional Consequences
Status:
UNKNOWN
Status Verified Date:
2007-12
Last Known Status:
ACTIVE_NOT_RECRUITING
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:
Parkinsons disease PD is the most frequent neurodegenerative disease with a prevalence of 2 over 65 years and because of this high prevalence as the population ages it is a major problem of public health
An exhaustive repertory of not only parkin mutations in autosomal recessive forms of PD but also in other known genes such as DJ-1 PINK1 and LRRK2 is of major importance for both genetic counseling in families affected with PD and physiopathological approaches to this disease
Through a French network for the study of Parkinsons disease genetics and extended collaborations with European Mediterranean and other various countries a total of 2934 subjects including 1683 patients and 1251 unaffected individuals has been collected since 2002 These samples consisted of 122 families with autosomal recessive PD 285 cases of isolated early onset PD 110 autosomal recessive and 129 autosomal dominant families with late onset PD 201 isolated late onset PD cases and 250 matched controls
DNAs from all subjects are now available lymphocytes and lymphoblastoid cell lines have been stored for most patients from France and recently fresh fibroblasts have been obtained for some individuals
The genetic approach to autosomal recessive PD is focused on the identification of mutations in the parkin gene but also on the screening of DJ-1 PINK1 and LRRK2 genes
An exhaustive repertory of not only parkin mutations in autosomal recessive forms of PD but also in other known genes such as DJ-1 PINK1 and LRRK2 is of major importance for both genetic counseling in families affected with PD and physiopathological approaches to this disease
Through a French network for the study of Parkinsons disease genetics and extended collaborations with European Mediterranean and other various countries a total of 2934 subjects including 1683 patients and 1251 unaffected individuals has been collected since 2002 These samples consisted of 122 families with autosomal recessive PD 285 cases of isolated early onset PD 110 autosomal recessive and 129 autosomal dominant families with late onset PD 201 isolated late onset PD cases and 250 matched controls
DNAs from all subjects are now available lymphocytes and lymphoblastoid cell lines have been stored for most patients from France and recently fresh fibroblasts have been obtained for some individuals
The genetic approach to autosomal recessive PD is focused on the identification of mutations in the parkin gene but also on the screening of DJ-1 PINK1 and LRRK2 genes
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01NS041723-01A1 | NIH | None | httpsreporternihgovquickSearchR01NS041723-01A1 |