Parkin Mutations and Their Functional Consequences
|ClinicalTrials.gov Identifier: NCT00136721|
Recruitment Status : Unknown
Verified December 2007 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was: Active, not recruiting
First Posted : August 29, 2005
Last Update Posted : December 4, 2007
Parkinson's 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 Parkinson's 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.
|Condition or disease|
|Study Type :||Observational|
|Enrollment :||2500 participants|
|Official Title:||Parkin Mutations and Their Functional Consequences|
|Study Start Date :||June 2002|
|Study Completion Date :||May 2006|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00136721
|Paris, France, 75013|
|Principal Investigator:||Alexis Brice, MD||Assistance Publique - Hôpitaux de Paris, University Paris 6|