Ignite Creation Date:
2024-05-05 @ 11:48 AM
Last Modification Date:
2024-10-26 @ 9:14 AM
Study NCT ID:
NCT00142311
Status:
TERMINATED
Last Update Posted:
2007-04-19
First Post:
2005-09-01
Brief Title:
Functional Characterization of Parkin Patients
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
Clinical Molecular and Metabolic Comparison Between Early Onset Parkinsonian With or Without Parkin Mutation Physiopathological Perspectives
Status:
TERMINATED
Status Verified Date:
2007-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Parkinsons 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 Parkinsons disease and secondary Parkinsons 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 n25 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
Parkinsons 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 Parkinsons disease The corresponding dopaminergic deficit should be associated with an excellent reactivity to levodopa to a cognitive deficit and to behavioural andor 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 Parkinsons 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 Parkinsons disease
Parkinsons 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 Parkinsons disease The corresponding dopaminergic deficit should be associated with an excellent reactivity to levodopa to a cognitive deficit and to behavioural andor 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 Parkinsons 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 Parkinsons disease
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| RAF03003P011104PCR02006 | None | None | None |
| 4CC03H-A02094SP | None | None | None |