Clinical trial NCT00142363: Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
Official title: The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Parkinson's Disease
Epilepsy
Keywords: Parkinson's disease
Parkin
Epilepsy
Phenotype-genotype correlations
Ionic channels
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
Collaborators: name: Ministry of Health, France
First posted: 2005-09-02
Enrollment: 1700
Sex: ALL
Minimum age (years): 1
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE

Brief 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.


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,
* 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Aix-en-Provence
country: France
facility: Centre Hospitalier du Pays d'Aix
city: Clermont-Ferrand
country: France
facility: Hôpital Gabriel Montpied
city: Grenoble
country: France
facility: CHU de Grenoble
city: Lille
country: France
facility: Hôpital Roger Salengro
city: Lyon
country: France
facility: Hôpital Neurologique Pierre Wertheimer
city: Nantes
country: France
facility: Hôpital René et Guillaume Laennec
city: Nice
country: France
facility: Hôpital Pasteur
city: Paris
country: France
facility: Hôpital Saint-Antoine
city: Paris
country: France
facility: Hôpital Pitié-Salpêtrière
city: Paris
country: France
facility: Pitié-Salpêtrière Hospital - Centre of Clinical Investigations
city: Paris
country: France
facility: Hôpital Robert Debré
city: Pessac
country: France
facility: Hôpital Haut-Lévêque
city: Rennes
country: France
facility: Hôpital Pontchaillou
city: Strasbourg
country: France
facility: Hôpital Civil
city: Toulouse
country: France
facility: Hôpital Purpan
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris, University Paris 6
name: Alexis Brice, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: Lesage S, Leutenegger AL, Ibanez P, Janin S, Lohmann E, Durr 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 dating from the 13th century. Am J Hum Genet. 2005 Aug;77(2):330-2. doi: 10.1086/432422. No abstract available.
citation: Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol. 2005 Nov;58(5):784-7. doi: 10.1002/ana.20636.
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. doi: 10.1051/medsci/200521121015. No abstract available. French.
citation: Ibanez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Durr 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 3):686-94. doi: 10.1093/brain/awl005. Epub 2006 Jan 9.
citation: 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.