Trial record 2 of 4 for:    PARK2

Functional Characterization of Parkin + Patients

This study has been terminated.
Sponsor:
Collaborator:
Assistance Publique - Hôpitaux de Paris
Information provided by:
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT00142311
First received: September 1, 2005
Last updated: April 18, 2007
Last verified: April 2007
  Purpose

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 Phase
Parkinson's Disease
Phase 1

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Longitudinal
Official Title: Clinical, Molecular and Metabolic Comparison Between Early Onset Parkinsonian, With or Without Parkin Mutation: Physiopathological Perspectives

Resource links provided by NLM:


Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 97
Study Start Date: November 2003
Estimated Study Completion Date: September 2006
  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

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.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00142311

Locations
France
Centre Hospitalier du Pays d'Aix
Aix-en-Provence, France, 13616
Hôpital Gabriel Montpied
Clermont-Ferrand, France, 63000
CHU
Grenoble, France, 38000
Hôpital Roger Salengro
Lille, France, 59000
Hôpital Neurologique Pierre Wertheimer
Lyon, France, 69003
Hôpital René et Guillaume Laennec
Nantes, France, 44000
Pitié-Salpêtrière Hospital - Federation of Neurology
Paris, France, 75013
Hôpital Saint-Antoine
Paris, France, 75012
Pitié-Salpêtrière Hospital - Service of Psychiatry
Paris, France, 75013
Pitié-Salpêtrière Hospital - Centre of Clinical Investigations
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
Investigators
Principal Investigator: Alexis Brice, MD Assistance Publique - Hôpitaux de Paris, University Paris 6
  More Information

Additional Information:
No publications provided

ClinicalTrials.gov Identifier: NCT00142311     History of Changes
Other Study ID Numbers: A02094, 4CC03H-A02094SP, RAF/03003/P011104/PCR02006
Study First Received: September 1, 2005
Last Updated: April 18, 2007
Health Authority: France: Ministry of Health
France: Institutional Ethical Committee

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

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

ClinicalTrials.gov processed this record on April 16, 2014