Clinical trial NCT00136721: Parkin Mutations and Their Functional Consequences
Official title: Parkin Mutations and Their Functional Consequences
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Parkinson's Disease
Keywords: Parkinson's disease
phenotype-genotype correlations
mutations spectrum
candidate genes
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
Collaborators: name: National Institutes of Health (NIH)
First posted: 2005-08-29
Enrollment: 2500
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Families with autosomal recessive PD, isolated early onset PD, autosomal recessive and autosomal dominant families with late onset PD, isolated late onset PD cases and matched controls.

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.


Eligibility criteria: 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

Primary outcomes:
measure: Genetic analysis
timeFrame: Day 1
measure: Transcryptome analysis
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Pitié-Salpêtrière
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris, University Paris 6
name: Alexis Brice, MD
role: PRINCIPAL_INVESTIGATOR
References:
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