Diagnostic Tools for Parkinson's Disease

Neuromed IRCCS500 enrolled

Overview

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.

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

Study Type

OBSERVATIONAL

Enrollment

500

Conditions

Parkinson Disease

Eligibility

Sex: ALLMin age: 30 YearsHealthy volunteers:

Medical Language ↔ Plain English

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.

Locations (1)

IRCCS Neuromed

Pozzilli, Italy

Outcomes

Primary Outcomes

Identification of genetic variants associated with Parkinson's disease

Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls

Time frame: Two years

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.