MedTrace Logo

Parkin Mutations and Their Functional Consequences

NCT00136721 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 2500

Last updated 2026-01-22

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Principal Investigators

  • Alexis Brice, MD · Assistance Publique - Hôpitaux de Paris, University Paris 6

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2005-02-08
Primary Completion
2021-02-07
Completion
2021-02-07

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00136721 on ClinicalTrials.gov