- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00142363
Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
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.
Study Overview
Status
Conditions
Study Type
Enrollment
Contacts and Locations
Study Locations
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Aix-en-Provence, France, 13616
- Centre Hospitalier du Pays d'Aix
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Clermont-Ferrand, France, 63000
- Hôpital Gabriel Montpied
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Grenoble, France, 38000
- CHU de Grenoble
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Lille, France, 59000
- Hopital Roger Salengro
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Lyon, France, 69003
- Hôpital Neurologique Pierre Wertheimer
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Nantes, France, 44000
- Hôpital René et Guillaume Laennec
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Nice, France, 06000
- Hôpital Pasteur
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Paris, France, 75012
- Hopital Saint-Antoine
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Paris, France, 75019
- Hôpital Robert Debré
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Paris, France, 75013
- Hôpital Pitié-Salpétrière
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Paris, France, 75013
- Pitié-Salpêtrière Hospital - Centre of Clinical Investigations
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Pessac, France, 33604
- Hôpital Haut-Lévèque
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Rennes, France, 35000
- Hôpital Pontchaillou
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Strasbourg, France, 67000
- Hôpital CIVIL
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Toulouse, France, 31000
- Hôpital Purpan
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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 Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Collaborators and Investigators
Collaborators
Publications and helpful links
General Publications
- 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, 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.
- 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.
- 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.
- 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.
- 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.
Helpful Links
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 4CH03G
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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