Diagnostic Tools for Parkinson's Disease
Completed
- Conditions
- Parkinson Disease
- Registration Number
- NCT02403765
- Lead Sponsor
- Neuromed IRCCS
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 500
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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Identification of genetic variants associated with Parkinson's disease Two years Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
IRCCS Neuromed
🇮🇹Pozzilli, Italy