Neuropsychiatry and Cognition in SCA3/MJD

Spinocerebellar Ataxia Type 3 Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04714307
• Other study ID #: 20190606
• Status: Recruiting
• Start date: December 13, 2019
• Est. completion date: August 1, 2023

Study information

• Verified date: January 2021
• Source: Hospital de Clinicas de Porto Alegre
• Contact: Laura B. Jardim, MD, PhD
• Phone: +55513359-8011
• Email: ljardim[@]hcpa.edu.br
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 144
• Est. completion date: August 1, 2023
• Est. primary completion date: February 1, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• 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.

Exclusion Criteria:

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

Related Conditions & MeSH terms

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

Intervention

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

Locations

Country	Name	City	State
Brazil	Hospital de Clinicas de Porto Alegre	Porto Alegre	Rio Grande Do Sul

Sponsors (1)

Lead Sponsor	Collaborator
Hospital de Clinicas de Porto Alegre

Country where clinical trial is conducted

Brazil, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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	Scale for the Assessment and Rating of Ataxia (SARA)	Correlations between primary outcomes and SARA.	Through study completion, an average of 1 year
Secondary	Composite Cerebellar Functional Severity Score (CCFS)	Correlations between primary outcomes and CCFS.	Through study completion, an average of 1 year
Secondary	SCA Functional Index	Correlations between primary outcomes and SCAFI.	Through study completion, an average of 1 year
Secondary	Friedreich Ataxia Rating Scale part II (FARS part II)	Correlations between primary outcomes and Activities of Daily Living from FARS part II.	Through study completion, an average of 1 year