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

Epilepsy Clinical Trial

Official title:

The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00142363
• Other study ID #: 4CH03G
• Status: Terminated
• Phase: Phase 1
• First received: September 1, 2005
• Last updated: February 28, 2006
• Start date: May 2004
• Est. completion date: December 2006

Study information

• Verified date: February 2006
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 1700
• Est. completion date: December 2006
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 1 Year to 90 Years

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Longitudinal

Related Conditions & MeSH terms

• Epilepsy
• Parkinson Disease
• Parkinson's Disease

Locations

Country	Name	City	State
France	Centre Hospitalier du Pays d'Aix	Aix-en-Provence
France	Hôpital Gabriel Montpied	Clermont-Ferrand
France	CHU de Grenoble	Grenoble
France	Hôpital Roger Salengro	Lille
France	Hôpital Neurologique Pierre Wertheimer	Lyon
France	Hôpital René et Guillaume Laennec	Nantes
France	Hôpital Pasteur	Nice
France	Hôpital Pitié-Salpêtrière	Paris
France	Hôpital Robert Debré	Paris
France	Hôpital Saint-Antoine	Paris
France	Pitié-Salpêtrière Hospital - Centre of Clinical Investigations	Paris
France	Hôpital Haut-Lévêque	Pessac
France	Hôpital Pontchaillou	Rennes
France	Hôpital Civil	Strasbourg
France	Hôpital Purpan	Toulouse

Sponsors (2)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France	Ministry of Health, France

Country where clinical trial is conducted

France, 

References & Publications (6)

Ibáñez P, Bonnet AM, Débarges B, Lohmann E, Tison F, Pollak P, Agid Y, Dürr 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. — View Citation

Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain. 2006 Mar;129(Pt — View Citation

Lesage S, Dürr 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. — View Citation

Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. G2019S LRRK2 mutation in French and North African families with Parkinson's diseas — View Citation

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. French. — View Citation

Lesage S, Leutenegger AL, Ibanez P, Janin S, Lohmann E, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dati — View Citation

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