Bioenergetic Function in Parkinson's Disease
Collecte de données
Synucléinopathies+6
+ Maladies des ganglions de la base
+ Maladies du cerveau
Résumé
Date de début de l'étude : 14 janvier 2004
Date à laquelle le premier participant a commencé l'étude.This study wants to focus on mitochondrial defects associated with Parkinson's disease (PD) and how they relate to alpha-synuclein (SNCA) expression and function. Individuals from families with inherited Parkinson's disease (affected and at risk members), as well as normal individuals, will be enrolled. All subjects will be asked to provide blood samples in order to study bioenergetic function in mitochondria from their platelets. These studies will include genotyping and determination of polymorphisms in the subjects' mitochondrial DNA (mtDNA) in order to delineate any significant abnormality that may be associated with a particular group. Cardiolipin levels will be obtained fee for service at Lipomics. Basic respirometry, enzyme activity, and somatic cell hybridization will be performed in the PI's lab. Protein analysis will be performed in the proteomics facility at NIMH.
Protocole
Cette section fournit des détails sur le plan de l'étude, y compris la manière dont l'étude est conçue et ce qu'elle évalue.150 participants à inclure
Nombre total de participants que l'essai clinique vise à recruter.Éligibilité
Les chercheurs recherchent des patients correspondant à une certaine description appelée critères d'éligibilité : état de santé général ou traitements antérieurs du patient.Tout sexe
Le sexe biologique des participants éligibles à s'inscrire.À partir de 18 ans
Tranche d'âge des participants éligibles à participer.Volontaires sains autorisés
Indique si les individus en bonne santé et ne présentant pas la condition étudiée peuvent participer.Conditions
Pathologie
Critères
* INCLUSION CRITERIA: Individuals over the age of 18 from families in which an inherited form of parkinson's disease is apparent will be enrolled. These patients are already enrolled in the Genetic linkage analysis protocol 97-HG-0173. The diagnosis of Parkinson's disease must be supported by accepted clinical criteria including: tremor, bradykinesia, rigidity and responsiveness to L-DOPA. Unaffected family members found to be at risk, will also be enrolled. The normal control group will be comprised of anonymous platelet donors from the NIH Department of Transfusion Medicine and of individuals over the age of 18 with no known neurological disorder and normal neurological examination matched by age and sex that may be actively recruited. Individuals with Lewy Body disease (LBD) that meet current criteria for diagnosis (hallucinations, diurnal variation, and dementia associated with extrapyramidal symptoms within a one year period) will also be included in the study. EXCLUSION CRITERIA: Because some medications can alter mitochondrial function, patients on MAO inhibitors, antidiabetic sulfonylureas and benzodiazepines will be excluded from the study. No person under the age of 18 will be enrolled in this study. This is due to the fact that, except for very rare occasions, Parkinson's disease affects only adults.
Centres d'étude
Ce sont les hôpitaux, cliniques ou centres de recherche où l'essai est conduit. Vous pouvez trouver le site le plus proche de vous ainsi que son statut.Cette étude comporte 1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesVoir le site