NCT04714307

Neuropsychiatry and Cognition in SCA3/MJD

Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 144 (estimated)
• Sponsor: Hospital de Clinicas de Porto Alegre · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Detailed description

By the end of this study, the evaluated population will be composed of 144 participants: 36 ataxic SCA3/MJD carriers, 72 at 50% risk of carrying the SCA3/MJD mutation and 36 healthy controls. Ataxic subjects are invited to participate if they have an established molecular diagnosis of SCA3/MJD and have a SARA score greater than 2.5 points. At risk subjects are composed by the offspring of molecularly diagnosed SCA3/MJD subjects that have a SARA\<3. Healthy controls belonging either to families living with the disease or to the general population are invited to participate according to how well they match with ataxic subjects included in the study. Subjects are invited to participate in the study and, after constentment procedures, cognitive-affective assessments and a scale on Activities of Daily Living (ADL) are performed on a videocall. At risk subjects collect a blood sample for double bilnd determination of their carrier status. Before March 2020, all procedures were performed in person and, instead of ADL, SARA, SCAFI and CCFS were obtained.

Conditions

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

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	SCA3/MJD molecular diagnosis	Double-blind molecular diagnosis for determination of the presence of the mutation.
DIAGNOSTIC_TEST	Cognitive Testing	Cross-sectional Cognitive evaluation with * CCAS Scale * Trail-Making Test parts A and B * Stroop Color-Word Test
DIAGNOSTIC_TEST	Psychiatric Evaluation	Cross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales.
DIAGNOSTIC_TEST	Clinical Neurological Evaluation	Cross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS.
DIAGNOSTIC_TEST	Emotional Attribution Evaluation	Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).
DIAGNOSTIC_TEST	Activities of Daily Living	Cross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II.

Timeline

• Start date: 2019-12-13
• Primary completion: 2021-02-01
• Completion: 2023-08-01
• First posted: 2021-01-19
• Last updated: 2021-01-19

Locations

1 site across 1 country: Brazil