Functional Characterization of Parkin + Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

97 participants

Study Classification

OBSERVATIONAL

Study Start Date

2003-11-30

Study Completion Date

2006-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Parkinson's Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Principal Investigators

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Alexis Brice, MD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris, University Paris 6

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France

Other Identifiers

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4CC03H-A02094SP

Identifier Type: -

Identifier Source: secondary_id

RAF/03003/P011104/PCR02006

Identifier Type: -

Identifier Source: secondary_id

A02094

Identifier Type: -

Identifier Source: org_study_id

Functional Characterization of Parkin + Patients

Study Results

Basic Information

Brief Summary

Detailed Description

Conditions

Study Design

Eligibility Criteria

Inclusion Criteria

Exclusion Criteria

Sponsors

Assistance Publique - Hôpitaux de Paris

Institut National de la Santé Et de la Recherche Médicale, France

Principal Investigators

Alexis Brice, MD

Locations

Centre Hospitalier du Pays d'Aix

Hôpital Gabriel Montpied

CHU

Hôpital Roger Salengro

Hôpital Neurologique Pierre Wertheimer

Hôpital René et Guillaume Laennec

Hôpital Saint-Antoine

Pitié-Salpêtrière Hospital - Centre of Clinical Investigations

Pitié-Salpêtrière Hospital - Federation of Neurology

Pitié-Salpêtrière Hospital - Service of Psychiatry

Hôpital Haut-Lévêque

Hôpital Pontchaillou

Hôpital Civil

Hôpital Purpan

Countries

Related Links

Other Identifiers

4CC03H-A02094SP

RAF/03003/P011104/PCR02006

A02094