Diagnostic Tools for Parkinson's Disease

Neuromed IRCCS

Status: Completed

Conditions: Parkinson Disease

Study type: Observational

Funder types: Other

Identifiers

NCT02403765

SMN01

Details and patient eligibility

About

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.

Full 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

Enrollment: 500 patients

Sex: All

Ages: 30+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

500 participants in 2 patient groups

Family cases

Description:

Family-based Parkinson patients carrying genetic variants associated with the disease

Family controls

Description:

Family-based Control subjects