Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes

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: Parkinson Disease
• Intervention / Treatment: Diagnostic test: Clinical examinations and clinical scales administration

• Study Type: Observational
• Enrollment (Estimated): 68

Contacts and Locations

• Study Contact: Name: Francesca Mameli, Dr; Phone Number: 0255033621; Email: francesca.mameli@policlinico.mi.it
• Study Contact Backup: Name: Fabiana Ruggiero, Dr; Phone Number: 0255033621; Email: fabiana.ruggiero@policlinico.mi.it

Study Locations

• Italy
  • Milan, Italy, 20122
    • Recruiting
    • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
    • Contact: Francesca Mameli; Phone Number: 0255033621; Email: francesca.mameli@policlinico.mi.it

Participation Criteria

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

How is the study designed?

Number of groups / cohorts

2

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	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	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	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	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	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	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	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

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

Study record dates

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: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Parkinson Disease
• 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