Parkin Mutations and Their Functional Consequences

Completed

• Conditions: Parkinson's Disease

• Registration Number: NCT00136721
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2005-02-08
• Study First Submitted: 2005-08-26
• Study First Submitted QC: 2005-08-26
• Study First Posted: 2005-08-29
• Primary Completion: 2021-02-07
• Study Completion: 2021-02-07
• Status Verified: 2025-03
• Last Update Submitted: 2025-04-17
• Last Update Posted: 2025-04-23

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2500

Inclusion Criteria

• Patients presenting with Parkinson's disease, with a family history or not,
• Minors presenting clinical signs of the disease,
• Controls (without signs of the disease, matched by sex and age with the patients, relatives for the familial cases)

Exclusion Criteria

• Persons refusing to sign the informed consent,
• Lack of clinical information

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic analysis	Day 1	On DNA extracted from a blood sample collected on EDTA and Lithium heparitane
Transcryptome analysis	Day 1	On RNA extracted from a blood sample collected on PAX-Gene

Trial Locations

Locations (1)

Hôpital Pitié-Salpêtrière; 🇫🇷 Paris, France