Neuropsychiatry and Cognition in SCA3/MJD

NCT04714307 | Unknown

• 1 other identifier: 20190606
• Study Type: observational
• Target: 144
• Locations: 1 country
• Sites: 1

Brief Summary

This research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations. Evaluations happening after March 2020 have been done by videocall with patients, and no neurological evaluation was thus performed on these patients. A scale on Activities of Daily Living was added to the online protocol to replace SARA, SCAFI and CCFS scales.

Conditions

Spinocerebellar Ataxia Type 3; Machado-Joseph Disease; SCA3; MJD

Outcome Measures

Primary Outcomes (7)

• Cerebellar Cognitive Affective Syndrome Scale

  Study the performance on the Cerebellar Cognitive Affective Syndrome Scale of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.

  Through study completion, an average of 1 year

• Trail-Making Test Part A and B

  Study the performance on the Trail-Making Test Part A and B of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.

  Through study completion, an average of 1 year

• Stroop Color-Word Test

  Study the performance on the Stroop Color-Word Test of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.

  Through study completion, an average of 1 year

• Emotion Attribution impairment in SCA3/MJD

  Study the performance of symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.

  Through study completion, an average of 1 year

• Emotion Attribution in different phases of the disease

  Study the performance of pre-symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.

  Through study completion, an average of 1 year

• Hamilton Anxiety Rating Scale

  Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Anxiety Rating Scale.

  Through study completion, an average of 1 year

• Hamilton Depression Rating Scale

  Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Depression Rating Scale.

  Through study completion, an average of 1 year

Secondary Outcomes (4)

• Scale for the Assessment and Rating of Ataxia (SARA)

  Through study completion, an average of 1 year

• Composite Cerebellar Functional Severity Score (CCFS)

  Through study completion, an average of 1 year

• SCA Functional Index

  Through study completion, an average of 1 year

• Friedreich Ataxia Rating Scale part II (FARS part II)

  Through study completion, an average of 1 year

Study Arms (3)

Symptomatic

Molecularly diagnosed SCA3/MJD Symptomatic subjects.

Diagnostic Test: Cognitive Testing; Diagnostic Test: Psychiatric Evaluation; Diagnostic Test: Clinical Neurological Evaluation; Diagnostic Test: Emotional Attribution Evaluation; Diagnostic Test: Activities of Daily Living

Non-related Controls

Controls matched with symptomatic by age and educational level.

Diagnostic Test: Cognitive Testing; Diagnostic Test: Psychiatric Evaluation; Diagnostic Test: Emotional Attribution Evaluation

At 50% risk for SCA3/MJD group

The offspring of affected individuals with SARA\<3. This group will be comprised of two subpopulations: pre-symptomatic individuals and related controls. The determination will be made upon molecular diagnosis to be done in a double-blind manner.

Diagnostic Test: SCA3/MJD molecular diagnosis; Diagnostic Test: Cognitive Testing; Diagnostic Test: Psychiatric Evaluation; Diagnostic Test: Clinical Neurological Evaluation; Diagnostic Test: Emotional Attribution Evaluation; Diagnostic Test: Activities of Daily Living

Interventions

SCA3/MJD molecular diagnosis DIAGNOSTIC_TEST

Double-blind molecular diagnosis for determination of the presence of the mutation.

At 50% risk for SCA3/MJD group

Cognitive Testing DIAGNOSTIC_TEST

Cross-sectional Cognitive evaluation with * CCAS Scale * Trail-Making Test parts A and B * Stroop Color-Word Test

At 50% risk for SCA3/MJD group; Non-related Controls; Symptomatic

Psychiatric Evaluation DIAGNOSTIC_TEST

Cross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales.

At 50% risk for SCA3/MJD group; Non-related Controls; Symptomatic

Clinical Neurological Evaluation DIAGNOSTIC_TEST

Cross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS.

At 50% risk for SCA3/MJD group; Symptomatic

Emotional Attribution Evaluation DIAGNOSTIC_TEST

Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).

At 50% risk for SCA3/MJD group; Non-related Controls; Symptomatic

Activities of Daily Living DIAGNOSTIC_TEST

Cross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II.

At 50% risk for SCA3/MJD group; Symptomatic

Eligibility Criteria

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

Study Population

Individuals with molecular diagnosis of SCA3/MJD will be recruited from the Medical Genetics Service database of Hospital de Clínicas de Porto Alegre, Brazil, by telephone calls or by invitation in the outpatient clinic. First degree relatives of these subjects at 50% risk of carrying the mutation will also be invited to participate. Healthy controls will be invited from the general population.

You may qualify if:

• Symptomatic:
• older than 18 year old;
• molecular diagnosis of SCA3/MJD;
• SARA\>2.5.
• At 50% risk:
• older than 18 year old;
• have a parent with molecular diagnosis of SCA3/MJD;
• SARA\<3.
• Healthy Controls
• older than 18 year old;
• no genetic relationship with a SCA3/MJD carrier.

You may not qualify if:

• Non agreement in signing the informed consent;
• Healthy Controls: having any history of genetic disorders in their families or any psychiatric or neurologic disorder.

Sponsors & Collaborators

• Hospital de Clinicas de Porto Alegre: lead

Study Sites (1)

Hospital de Clinicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, 90035-903, Brazil

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be retained under codification for the use of this research only.

MeSH Terms

Conditions

Machado-Joseph Disease

Condition Hierarchy (Ancestors)

Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Laura B. Jardim, MD, PhD

  Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laura B. Jardim, MD, PhD

CONTACT

+55513359-8011; ljardim@hcpa.edu.br

Gabriela Bolzan, MD

CONTACT

+55513359-8011; gbgabrielabolzan@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 8, 2020
• First Posted: January 19, 2021
• Study Start: December 13, 2019
• Primary Completion: February 1, 2021
• Study Completion: August 1, 2023
• Last Updated: January 19, 2021

Record last verified: 2021-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, CSR
• Time Frame: Data will become available after final statistical analysis and data publishing via direct contact with principal investigator.
• Access Criteria: Investigators and researchers of the area

Locations

BR (1)