Trial record 9 of 12 for:    LRRK2

Parkin Mutations and Their Functional Consequences

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2007 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
Information provided by:
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT00136721
First received: August 26, 2005
Last updated: December 3, 2007
Last verified: December 2007
  Purpose

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 Phase
Parkinson's Disease
Phase 1

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Parkin Mutations and Their Functional Consequences

Resource links provided by NLM:


Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 2500
Study Start Date: June 2002
Estimated Study Completion Date: May 2006
  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00136721

Locations
France
Hôpital Pitié-Salpêtrière
Paris, France, 75013
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
Principal Investigator: Alexis Brice, MD Assistance Publique - Hôpitaux de Paris, University Paris 6
  More Information

Additional Information:
Publications:
Brice A, Lohmann E, Ibanez P, Periquet M, Laine S, Debarges B, Lesage S, Dürr A. Phenotype/genotype correlations in Parkinson's disease. In: Relationships in Neurodegenerative Diseases, Cummings, Hardy, Poncet and Christen (Eds), Springer-Verlag Berlin Heidelberg Eds, 153-64, 2005.
Foroud T, Pankratz N, Martinez M, and the PROGENI/GSPD European Consortium. Chromosome 5 and Parkinson disease. Eur J Hum Genet, 14(10): 1106-1110, 2006.

Responsible Party: Alexis Brice, Inserm
ClinicalTrials.gov Identifier: NCT00136721     History of Changes
Other Study ID Numbers: 9HD01H, R01NS41723-01A1
Study First Received: August 26, 2005
Last Updated: December 3, 2007
Health Authority: France: Ministry of Health

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
phenotype-genotype correlations
mutations spectrum
candidate genes

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases

ClinicalTrials.gov processed this record on July 22, 2014