Functional Characterization of Parkin + Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00142311
Recruitment Status : Terminated
First Posted : September 2, 2005
Last Update Posted : April 19, 2007
Assistance Publique - Hôpitaux de Paris
Information provided by:
Institut National de la Santé Et de la Recherche Médicale, France

Brief Summary:

Parkinson’s disease is one of the most frequent neurodegenerative diseases, and for which the mechanisms remains unknown. Since the implication of susceptibility factors is highly suspect, we have recently shown that one monogenic form due to alterations in the Parkin gene was responsible for an important proportion of early onset familial and isolated cases. Nevertheless, it not has been determined yet the relationship between idiopathic Parkinson’s disease and secondary Parkinson’s disease with a Parkin gene mutation at the clinical, neuropsychological, metabolic and physiopathological levels. For establishing phenotype-genotype correlations, we propose to compare the phenotype of patients carrying a Parkin mutation (parkin « + », n=25) to those of early onset parkinsonians without a Parkin mutation (Parkin ” - ”, n = 25), and for some aspects (neuropsychological, behavioural and psychiatric evaluations) to the healthy brothers and sisters of Parkin cases “+”(n = 25). The evaluation will carry on the clinical aspects (quantification of the parkinsonian syndrome and reactivity to levodopa, neuropsychological, behavioural and psychiatric evaluations), molecular (types of abnormalities in the Parkin gene) and metabolic (PET – tomography by positron emission) of the disease.

Parkinson’s disease caused by Parkin gene mutations is associated with an important and homogeneous loss of dopaminergic neurons of the substantia nigra pars compacta, which is different from those observed during the idiopathic Parkinson’s disease. The corresponding dopaminergic deficit should be associated with an excellent reactivity to levodopa, to a cognitive deficit and to behavioural and/or psychiatric attitudes, in relation with the massive alteration of dopaminergic efferences.

This multidisciplinary approach on Parkin cases will be performed in the centers for of clinical investigations of Grenoble and Paris, with the help of the French Parkinson’s Disease Study Group, and two centers for TEP (Lyon and Orsay). This project will allow to a better definition of diagnostic criteria of Parkin « + » cases, which will help for the molecular diagnosis in early onset cases, and will study precisely the clinical, psychiatric and metabolic consequences of a massive and homogeneous dopaminergic denervation, which seems to be different of idiopathic Parkinson’s disease.

Condition or disease
Parkinson's Disease

Study Type : Observational
Enrollment : 97 participants
Observational Model: Case Control
Observational Model: Natural History
Time Perspective: Longitudinal
Time Perspective: Prospective
Official Title: Clinical, Molecular and Metabolic Comparison Between Early Onset Parkinsonian, With or Without Parkin Mutation: Physiopathological Perspectives
Study Start Date : November 2003
Study Completion Date : September 2006

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

- Age at onset before 45 Presence of at least two of the three cardinal signs: bradykinesia, rigidity with dental wheel, postural tremor Frank response to L-Dopa (> 30 %) Absence of personal history of meningitis-encephalopathy, neuroleptic treatment, absence of pyramidal, cerebellar or oculomotor signs, absence of dysautonomia or dementia that occurred less than 2 years before the onset of the disease Exclusion of Wilson's disease by usual biological tests Normal cerebral MRI

Exclusion Criteria:

- Incapacity of the patient to understand and participate in the protocol

Patients who present a contraindication to the realization of cerebral MRI (pacemaker, cardiac valve, ustensile of neurosurgery or vascular surgery, intraocular tissue) could not be included in the group of patients with PET.

Women in age to procreate could not participate to the study with PET, only if she uses an effective contraception (oestroprogestives or a coil). Furthermore, the dates of PET examinations should be at the beginning of the menstrual cycle. At the first doubt, a dosage of b-HCG will be performed.

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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00142311

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

Additional Information: Identifier: NCT00142311     History of Changes
Other Study ID Numbers: A02094
First Posted: September 2, 2005    Key Record Dates
Last Update Posted: April 19, 2007
Last Verified: April 2007

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Parkinson's disease
Parkin mutations
Metabolic explorations

Additional relevant MeSH terms:
Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases