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Wolff-Parkinson-White Syndrome |
WPW |
Clinical Trial: Parkin Mutations
This study is currently recruiting patients.
Verified by Institut National de la Santé Et de la Recherche Médicale, France August 2005
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Purpose
Parkinson’s disease (PD) is the most frequent neurodegenerative disease with a prevalence of 2% over 65 years and because of this high prevalence as the population ages, it is a major problem of public health.
An exhaustive repertory of not only parkin mutations in autosomal recessive forms of PD but also in other known genes such as DJ-1, PINK1 and LRRK2, is of major importance for both genetic counseling in families affected with PD and physiopathological approaches to this disease.
Through a French network for the study of Parkinson’s disease genetics and extended collaborations with European, Mediterranean and other various countries, a total of 2934 subjects including 1683 patients and 1251 unaffected individuals has been collected since 2002. Theses samples consisted of 122 families with autosomal recessive PD, 285 cases of isolated early onset PD, 110 autosomal recessive and 129 autosomal dominant families with late onset PD, 201 isolated late onset PD cases and 250 matched controls.
DNAs from all subjects are now available, lymphocytes and lymphoblastoid cells lines have been stored for most patients from France and recently fresh fibroblasts have been obtained for some individuals.
The genetic approach to autosomal recessive PD is focused on the identification of mutations in the parkin gene but also on the screening of DJ-1, PINK1 and LRRK2 genes.
| Condition | Phase |
|---|---|
| Parkinson''''s Disease | Phase I |
MedlinePlus related topics: Parkinson''''s Disease
Genetics Home Reference related topics: Parkinson disease
Study Type: Observational
Study Design: Screening, Longitudinal, Case Control, Prospective Study
Official Title: Parkin Mutations and Their Functional Consequences
Expected Total Enrollment: 2500
Study start: June 2002; Expected completion: August 2006
Last follow-up: May 2006; Data entry closure: August 2006
Eligibility
Accepts Healthy Volunteers
Inclusion Criteria:
- patients presenting a Parkinson''''s disease, with a family history or not, minors presenting clinical signs of the disease, controls (without signs of the disease, matched with sex and age with the patients, relatives for the familial cases
Exclusion Criteria:
- persons refusing to sign the informed consent, lack of clinical informations
Location and Contact Information
France
Hôpital Pitié-Salpêtrière, Paris, 75013, France; Recruiting
Alexis Brice, MD, Principal Investigator
Alexandra Dürr, MD, PhD, Sub-Investigator
Yves Agid, MD, PhD, Sub-Investigator
Alexis Brice, MD, Principal Investigator, Assistance Publique - Hôpitaux de Paris, University Paris 6
More Information
Publications that report results of this study
Rawal N, Periquet M, Lohmann E, Lucking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destee A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Durr A, Brice A; French Parkinson''''s Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson''''s Disease. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology. 2003 Apr 22;60(8):1378-81.
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Durr A, Brice A; French Parkinson''''s Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson''''s Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 2003 Jun;126(Pt 6):1271-8.
Ibanez P, Lohmann E, Pollak P, Durif F, Tranchant C, Agid Y, Durr A, Brice A; French Parkinson''''s Disease Genetics Study Group. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology. 2004 Jun 8;62(11):2133-4. No abstract available.
Ibanez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Durr A, Brice A; French Parkinson''''s Disease Genetics Study Group. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology. 2003 Nov 25;61(10):1429-31.
Lucking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Durr A, Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol. 2003 Sep;60(9):1253-6.
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destee A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson''''s Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson''''s Disease. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol. 2003 Aug;54(2):176-85.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Betard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Durr A. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson''''s disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136(1):72-4.
Last Updated: August 26, 2005
Record first received: August 26, 2005
ClinicalTrials.gov Identifier: NCT00136721
Health Authority: France: Ministry of Health
ClinicalTrials.gov processed this record on 2005-08-30
Resources
- Wolff-Parkinson-White Syndrome (Cleveland Clinic)
- Wolff-Parkinson-White syndrome (Google Health)
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