- ICH GCP
- Registre américain des essais cliniques
- Essai clinique NCT00142311
Functional Characterization of Parkin + Patients
Clinical, Molecular and Metabolic Comparison Between Early Onset Parkinsonian, With or Without Parkin Mutation: Physiopathological Perspectives
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.
Aperçu de l'étude
Statut
Les conditions
Type d'étude
Inscription
Contacts et emplacements
Lieux d'étude
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Aix-en-Provence, France, 13616
- Centre Hospitalier du Pays d'Aix
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Clermont-Ferrand, France, 63000
- Hôpital Gabriel Montpied
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Grenoble, France, 38000
- CHU
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Lille, France, 59000
- Hôpital Roger Salengro
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Lyon, France, 69003
- Hôpital Neurologique Pierre Wertheimer
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Nantes, France, 44000
- Hôpital René et Guillaume Laennec
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Paris, France, 75012
- Hopital Saint-Antoine
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Paris, France, 75013
- Pitié-Salpêtrière Hospital - Centre of Clinical Investigations
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Paris, France, 75013
- Pitié-Salpêtrière Hospital - Federation of Neurology
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Paris, France, 75013
- Pitié-Salpêtrière Hospital - Service of Psychiatry
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Pessac, France, 33604
- Hôpital Haut-Lévêque
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Rennes, France, 35000
- Hôpital Pontchaillou
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Strasbourg, France, 67000
- Hôpital CIVIL
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Toulouse, France, 31000
- Hopital Purpan
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Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
Accepte les volontaires sains
Sexes éligibles pour l'étude
La description
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.
Plan d'étude
Comment l'étude est-elle conçue ?
Détails de conception
Collaborateurs et enquêteurs
Collaborateurs
Publications et liens utiles
Liens utiles
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude
Achèvement de l'étude
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Estimation)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Estimation)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Termes MeSH pertinents supplémentaires
Autres numéros d'identification d'étude
- A02094
- 4CC03H-A02094SP
- RAF/03003/P011104/PCR02006
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