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Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
This study has been terminated.
Sponsors and Collaborators: Institut National de la Santé Et de la Recherche Médicale, France
Ministry of Health, France
Information provided by: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT00142363
  Purpose

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.

Condition Phase
Parkinson's Disease
Epilepsy
Phase I

Genetics Home Reference related topics: familial paroxysmal nonkinesigenic dyskinesia Parkinson disease pyridoxal 5'-phosphate-dependent epilepsy
MedlinePlus related topics: Epilepsy Parkinson's Disease
U.S. FDA Resources
Study Type: Observational
Study Design: Natural History, Longitudinal, Case Control, Prospective Study
Official Title: The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies

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

Estimated Enrollment: 1700
Study Start Date: May 2004
Estimated Study Completion Date: December 2006
  Eligibility

Ages Eligible for Study:   1 Year to 90 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,
  • 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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00142363

Locations
France
Centre Hospitalier du Pays d'Aix
Aix-en-Provence, France, 13616
CHU de Grenoble
Grenoble, France, 38000
Hôpital Civil
Strasbourg, France, 67000
Hôpital Gabriel Montpied
Clermont-Ferrand, France, 63000
Hôpital Haut-Lévêque
Pessac, France, 33604
Hôpital Neurologique Pierre Wertheimer
Lyon, France, 69003
Hôpital Pitié-Salpêtrière
Paris, France, 75013
Hôpital Robert Debré
Paris, France, 75019
Hôpital Purpan
Toulouse, France, 31000
Hôpital René et Guillaume Laennec
Nantes, France, 44000
Hôpital Roger Salengro
Lille, France, 59000
Hôpital Saint-Antoine
Paris, France, 75012
Pitié-Salpêtrière Hospital - Centre of Clinical Investigations
Paris, France, 75013
Hôpital Pasteur
Nice, France, 06000
Hôpital Pontchaillou
Rennes, France, 35000
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Ministry of Health, France
Investigators
Principal Investigator: Alexis Brice, MD Assistance Publique - Hôpitaux de Paris, University Paris 6
  More Information

Related Info  This link exits the ClinicalTrials.gov site

Publications of Results:
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.
Lesage S, Ibanez P, Lohmann E, Agid Y, Durr A, Brice A. The G2019SLRRK2 Mutation in Autosomal Dominant European and North African Parkinson's Disease is Frequent and its Penetrance is Age-Dependant: LBS.003. Neurology. 2005 May 24;64(10):1826. No abstract available.
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. No abstract available.
Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Durr A, Brice A. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol. 2005 Nov;58(5):784-7.
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):1015-1017. French. No abstract available.
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. Epub 2006 Jan 9.
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. No abstract available.

Study ID Numbers: 4CH03G
Study First Received: September 1, 2005
Last Updated: February 28, 2006
ClinicalTrials.gov Identifier: NCT00142363  
Health Authority: France: Ministry of Health

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
Parkin
Epilepsy
Phenotype-genotype correlations
Ionic channels

Study placed in the following topic categories:
Ganglion Cysts
Movement Disorders
Parkinson Disease
Epilepsy
Basal Ganglia Diseases
Central Nervous System Diseases
Parkinsonian Disorders
Neurodegenerative Diseases
Brain Diseases

Additional relevant MeSH terms:
Nervous System Diseases

ClinicalTrials.gov processed this record on January 16, 2009