Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

1700 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-05-31

Study Completion Date

2006-12-31

Brief Summary

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The DNA and Cell Bank of Instituts Federatifs de Recherche (IFR) of Neurosciences has been running for the last 15 years at the Institut National de la Santé Et de la Recherche Médicale (INSERM) Unit 679 (former unit 289). Since its creation, this structure has been the support of research projects in genetics for neurological and psychiatric disorders. The cohorts established have led to discoveries in monogenic disorders, such as cerebellar ataxias, spastic paraplegias, frontotemporal dementias, epilepsies, Parkinson's and Alzheimer's disease, Charcot-Marie-Tooth disease and related entities. The research projects based on the study of the genetic bases in Parkinson's disease and epilepsies are especially developed for this grant.

Concerning Parkinson's disease, the project is based on the extension of the existing cohort throughout the French Parkinson's Disease Study Group network. Concerning epilepsies, this project is the occasion to build this network with the constitution of a new cohort.

The specific aims of the scientific projects are the following for Parkinson's disease:

* to evaluate the frequency, the nature and the phenotype associated with parkin mutations in familial or sporadic forms of the disease, according to the age at onset, and
* to identify the genetic susceptibility factors in Parkinson's disease with the study of affected sibpairs and with case/controls association studies.

For epilepsies, the aims are:

* to evaluate the frequency, the nature and the phenotype associated with SCN1A, SCNab and GABR2 gene mutations in familial or sporadic forms of the affection associated with febrile seizures, and
* to search for an intervention SCN1A, SCN1B and GABRG2 as susceptible genes in these forms of epilepsies.

Detailed Description

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Conditions

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Parkinson's Disease Epilepsy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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,
* Patients presenting with an epilepsy episode (myoclonic epilepsy of the newborn, with febrile seizures, of the frontal lobe)

Exclusion Criteria

* Lack of signed informed consent

Minimum Eligible Age

1 Year

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Principal Investigators

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Alexis Brice, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris, University Paris 6

Toulouse, , France

Site Status

Countries

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France

Reference Type RESULT

PMID: 16436781 (View on PubMed)

Other Identifiers

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4CH03G

Identifier Type: -

Identifier Source: org_study_id

Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies

Study Results

Basic Information

Brief Summary

Detailed Description

Conditions

Study Design

Eligibility Criteria

Inclusion Criteria

Exclusion Criteria

Sponsors

Ministry of Health, France

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

Principal Investigators

Alexis Brice, MD

Locations

Centre Hospitalier du Pays d'Aix

Hôpital Gabriel Montpied

CHU de Grenoble

Hôpital Roger Salengro

Hôpital Neurologique Pierre Wertheimer

Hôpital René et Guillaume Laennec

Hôpital Pasteur

Hôpital Saint-Antoine

Hôpital Pitié-Salpêtrière

Pitié-Salpêtrière Hospital - Centre of Clinical Investigations

Hôpital Robert Debré

Hôpital Haut-Lévêque

Hôpital Pontchaillou

Hôpital Civil

Hôpital Purpan

Countries

References

Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P, Agid Y, Durr A, Brice A. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet. 2004 Sep 25-Oct 1;364(9440):1169-71. doi: 10.1016/S0140-6736(04)17104-3.

Lesage S, Leutenegger AL, Brice A. [LRRK2: a gene belonging to the ROCO family is implicated in the Parkinson's disease]. Med Sci (Paris). 2005 Dec;21(12):1015-7. doi: 10.1051/medsci/200521121015. No abstract available. French.

Lesage S, Durr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A; French Parkinson's Disease Genetics Study Group. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med. 2006 Jan 26;354(4):422-3. doi: 10.1056/NEJMc055540. No abstract available.

Related Links

Other Identifiers

4CH03G