Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes

Recruiting

• Conditions: Parkinson Disease
• Interventions: Diagnostic Test: Clinical examinations and clinical scales administration

• Registration Number: NCT06329739
• Lead Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-12-14
• Status Verified: 2024-03
• Study First Submitted: 2024-03-06
• Study First Submitted QC: 2024-03-21
• Last Update Submitted: 2024-03-21
• Study First Posted: 2024-03-26
• Last Update Posted: 2024-03-26
• Primary Completion: 2031-12-14
• Study Completion: 2031-12-14

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 68

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Control group	Clinical examinations and clinical scales administration	Parkinson's Disease patients without genetic mutation
Experimental group	Clinical examinations and clinical scales administration	Parkinson's Disease patients with genetic mutation

Primary Outcome Measures

Name	Time	Method
Pittsburgh Sleep Quality Index	Annual assessments up to 5 years	Sleep Quality change (PSQI, min 0, max 21, higher score means poorer sleep quality)
Parkinson's Disease Questionnaire-8	Annual assessments up to 5 years	Quality of life change from baseline to 5 years (PDQ-8, min 0, max 100, higher score means worse outcome)
Montreal Cognitive Assessment	Annual assessments up to 5 years	Cognitive impairment change from baseline until 5 years in Montreal Cognitive Assessment (MoCA; min. 0, max. 30, higher score means better outcome)
Beck Depression Inventory	Annual assessments up to 5 years	Depressive symptoms change from baseline to 5 year (BDI-II, min 0, max 63, higher score means worse outcome)
State-Trait Anxiety Inventory	Annual assessments up to 5 years	Anxiety symptoms change from baseline to 5 year (STAI, min 20, max 80, higher score means worse outcome)
Minnesota Multiphasic Personality Inventory 2-RF	Annual assessments up to 5 years	Personality change from baseline to 5 years (MMPI-2-RF, cut-off: T\>65 for clinical scales)
Questionnaire for Impulsive-Compulsive Disorders in Parkinson	Annual assessments up to 5 years	Impulsivity change from baseline to 5 years (QUIP, min 0, max 112, higher score means worse outcome)

Trial Locations

Locations (1)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; 🇮🇹 Milan, Italy