Parkin Mutations and Their Functional Consequences

Parkinson's Disease Clinical Trial

Official title:

Parkin Mutations and Their Functional Consequences

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT00136721
• Other study ID #: 9HD01H
• Secondary ID: R01NS041723-01A1
• Status: Active, not recruiting
• Phase: Phase 1
• First received: August 26, 2005
• Last updated: December 3, 2007
• Start date: June 2002
• Est. completion date: May 2006

Study information

• Verified date: December 2007
• 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

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. These 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 cell 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 2500
• Est. completion date: May 2006
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years to 80 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)

Exclusion Criteria:

• Persons refusing to sign the informed consent,

• Lack of clinical information

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Parkinson Disease
• Parkinson's Disease

Locations

Country	Name	City	State
France	Hôpital Pitié-Salpêtrière	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France	National Institutes of Health (NIH)

Country where clinical trial is conducted

France, 

References & Publications (15)

Brice A, Lohmann E, Ibanez P, Periquet M, Laine S, Debarges B, Lesage S, Dürr A. Phenotype/genotype correlations in Parkinson's disease. In: Relationships in Neurodegenerative Diseases, Cummings, Hardy, Poncet and Christen (Eds), Springer-Verlag Berlin He

Brice A. [What can we learn from genes responsible for familial forms of Parkinson's disease?]. Bull Acad Natl Med. 2006 Feb;190(2):485-96; discussion 497-8. Review. French. — View Citation

Foroud T, Pankratz N, Martinez M; PROGENI/GSPD-European Consortium. Chromosome 5 and Parkinson disease. Eur J Hum Genet. 2006 Oct;14(10):1106-10. Epub 2006 May 31. — View Citation

Ibáñez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, Agid Y, Heutink P, Dürr 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;6 — 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

Ibáñez P, Lohmann E, Pollak P, Durif F, Tranchant C, Agid Y, Dürr 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 — View Citation

Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Clinical features of Parkinson disease pa — 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, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group, Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez — View Citation

Lesage S, Magali P, Lohmann E, Lacomblez L, Teive H, Janin S, Cousin PY, Dürr A, Brice A; French Parkinson Disease Genetics Study Group. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat. 2007 Jan;28(1):27-32. — View Citation

Leutenegger AL, Salih MA, Ibáñez P, Mukhtar MM, Lesage S, Arabi A, Lohmann E, Dürr A, Ahmed AE, Brice A. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. Arch Neurol. 2006 Sep;63(9):1 — View Citation

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, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French P — View Citation

Lücking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Dürr A, Brice A. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease. Arch Neurol. 2003 Sep;60(9):1253-6. — View Citation

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, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic — View Citation

Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A; French Parkinson's — View Citation

* Note: There are 15 references in all — Click here to view all references

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