Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes

NCT06329739 | Recruiting

• 1 other identifier: NeuroPsico_Dopa&PD
• Study Type: observational
• Target: 68
• Locations: 1 country
• Sites: 1

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.

Conditions

Parkinson Disease

Outcome Measures

Primary Outcomes (7)

• 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

• 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

Study Arms (2)

Experimental group

Parkinson's Disease patients with genetic mutation

Diagnostic Test: Clinical examinations and clinical scales administration

Control group

Parkinson's Disease patients without genetic mutation

Diagnostic Test: Clinical examinations and clinical scales administration

Interventions

Clinical examinations and clinical scales administration DIAGNOSTIC_TEST

Psychometric assessment of cognitive and behavioral outcomes

Control group; Experimental group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Patients underwent Deep Brain Stimulation (DBS) treatment

Sponsors & Collaborators

• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: lead

Study Sites (1)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, 20122, Italy

RECRUITING

MeSH Terms

Conditions

Parkinson Disease

Interventions

Physical Examination

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis

Study Officials

• Francesca Mameli, Dr

  Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Francesca Mameli, Dr

CONTACT

0255033621; francesca.mameli@policlinico.mi.it

Fabiana Ruggiero, Dr

CONTACT

0255033621; fabiana.ruggiero@policlinico.mi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 6, 2024
• First Posted: March 26, 2024
• Study Start: December 14, 2021
• Primary Completion (Estimated): December 14, 2031
• Study Completion (Estimated): December 14, 2031
• Last Updated: March 26, 2024

Record last verified: 2024-03

Locations

IT (1)