Realization of Diagnostic Tools for the Early Analysis of Parkinson's Disease Through the Identification of Genetic Risk Profiles

Neuromed IRCCS1 site in 1 country500 target enrollmentMay 2015

ConditionsParkinson Disease

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Parkinson Disease
Sponsor: Neuromed IRCCS
Enrollment: 500
Locations: 1
Primary Endpoint: Identification of genetic variants associated with Parkinson's disease
Status: Completed
Last Updated: 6 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

Brief Summary

The study aims to identify genetic variants associated to Parkinson's disease through the analysis of exome-sequencing data of familial cases and controls. The identified variants will be used to generate a diagnostic tool for the identification of genetic risk profiles.

Detailed Description

1. Clinical evaluation of PD patients and relatives 2. High throughput analysis of genetic variants in genome exomes 3. Genotype-phenotype association testing 4. Identification of genetic risk variants for PD

Registry

clinicaltrials.gov

Start Date

May 2015

End Date

October 31, 2019

Last Updated

6 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Neuromed IRCCS

Responsible Party

Principal Investigator

Antonio Simeone

Head

Neuromed IRCCS

Eligibility Criteria

Inclusion Criteria

•Presence of at least two out the following cardinal signs: resting tremor, cogwheel rigidity, bradykinesia, asymmetrical onset of symptoms and symptomatic response to L-dopa (levodopa)

Exclusion Criteria

•Previous thalamotomy on the implanted sided, significant brain atrophy or structural damage seen on CT or MRI, marked cognitive dysfunction, active psychiatric symptoms, or concurrent neurological or other uncontrolled medical disorders.