Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Parkinson Disease

Treatments: Diagnostic Test: Clinical examinations and clinical scales administration

Study type: Observational

Funder types: Other

Identifiers

NCT06329739

NeuroPsico_Dopa&PD

Details and patient eligibility

About

The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD.

The goal of this observational study is to evaluate the impact of genetic mutation on behavior and cognition in PD patients.

Patients will be assessed over time using test, questionnaire and standardised clinica scales. An initial assessment and annual follow-up assessments will be carried out for 5 years.

Researchers will compare data collected from patients with genetic mutation versus patients without mutation.

Enrollment: 68 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• diagnosed with Parkinson's Disease (PD)
• in use of dopaminergic medication (L-Dopa and/or dopamine agonists)
• genetic testing for mendelian forms of PD
• able to provide informed consent to participate in the study

Exclusion criteria

• Patients underwent Deep Brain Stimulation (DBS) treatment

Trial design

68 participants in 2 patient groups

Experimental group

Description:

Parkinson's Disease patients with genetic mutation

Treatment:

Diagnostic Test: Clinical examinations and clinical scales administration

Control group

Description:

Parkinson's Disease patients without genetic mutation

Treatment:

Diagnostic Test: Clinical examinations and clinical scales administration