NCT00136721

Parkin Mutations and Their Functional Consequences

Completed Last updated 22 January 2026

What this trial tests

trial in Parkinson's Disease in 2,500 participants. Completed in 7 February 2021.

Timeline

8 February 2005

Primary endpoint
7 February 2021

7 February 2021

Quick facts

Lead sponsor	Institut National de la Santé Et de la Recherche Médicale, France
Status	Completed
Study type	OBSERVATIONAL
Enrollment	2,500
Start date	8 February 2005
Primary completion	7 February 2021
Estimated completion	7 February 2021
Sites	1 location across France

Conditions studied

• Parkinson's Disease — all drugs for Parkinson's Disease →

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France — full company profile →

Who can join

Adults 18 to 80, any sex, with Parkinson's Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.