Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes

March 21, 2024 updated by: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes in Patients Undergoing Dopaminergic Treatment

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

68

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Participants clinically diagnosed with Parkinson's Disease (PD) undergoing genetic testing for mendelian forms of PD

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Experimental group
Parkinson's Disease patients with genetic mutation
Diagnostic test: Clinical examinations and clinical scales administration
Psychometric assessment of cognitive and behavioral outcomes
Control group
Parkinson's Disease patients without genetic mutation
Diagnostic test: Clinical examinations and clinical scales administration
Psychometric assessment of cognitive and behavioral outcomes

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Beck Depression Inventory
Time Frame: 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)
Annual assessments up to 5 years
State-Trait Anxiety Inventory
Time Frame: Annual assessments up to 5 years
Anxiety symptoms change from baseline to 5 year (STAI, min 20, max 80, higher score means worse outcome)
Annual assessments up to 5 years
Questionnaire for Impulsive-Compulsive Disorders in Parkinson
Time Frame: Annual assessments up to 5 years
Impulsivity change from baseline to 5 years (QUIP, min 0, max 112, higher score means worse outcome)
Annual assessments up to 5 years
Pittsburgh Sleep Quality Index
Time Frame: Annual assessments up to 5 years
Sleep Quality change (PSQI, min 0, max 21, higher score means poorer sleep quality)
Annual assessments up to 5 years
Parkinson's Disease Questionnaire-8
Time Frame: 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)
Annual assessments up to 5 years
Minnesota Multiphasic Personality Inventory 2-RF
Time Frame: Annual assessments up to 5 years
Personality change from baseline to 5 years (MMPI-2-RF, cut-off: T>65 for clinical scales)
Annual assessments up to 5 years
Montreal Cognitive Assessment
Time Frame: 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)
Annual assessments up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Investigators

  • Principal Investigator: Francesca Mameli, Dr, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 14, 2021

Primary Completion (Estimated)

December 14, 2031

Study Completion (Estimated)

December 14, 2031

Study Registration Dates

First Submitted

March 6, 2024

First Submitted That Met QC Criteria

March 21, 2024

First Posted (Actual)

March 26, 2024

Study Record Updates

Last Update Posted (Actual)

March 26, 2024

Last Update Submitted That Met QC Criteria

March 21, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NeuroPsico_Dopa&PD

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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