Neuropsychiatry and Cognition in SCA3/MJD

January 15, 2021 updated by: Hospital de Clinicas de Porto Alegre

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

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
144

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • Brazil
    • Rio Grande Do Sul
      • Porto Alegre, Rio Grande Do Sul, Brazil, 90035-903
        • Recruiting
        • Hospital de Clínicas de Porto Alegre
        • Contact:
        • Contact:
        • Principal Investigator:
          • Laura B. Jardim, MD, PhD
        • Sub-Investigator:
          • Gabriela Bolzan, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

14 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Symptomatic
Molecularly diagnosed SCA3/MJD Symptomatic subjects.
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.
Non-related Controls
Controls matched with symptomatic by age and educational level.
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: Emotional Attribution Evaluation
Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).
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: 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.
Diagnostic test: SCA3/MJD molecular diagnosis
Double-blind molecular diagnosis for determination of the presence of the mutation.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Cerebellar Cognitive Affective Syndrome Scale
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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
Time Frame: Through study completion, an average of 1 year
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 Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Scale for the Assessment and Rating of Ataxia (SARA)
Time Frame: Through study completion, an average of 1 year
Correlations between primary outcomes and SARA.
Through study completion, an average of 1 year
Composite Cerebellar Functional Severity Score (CCFS)
Time Frame: Through study completion, an average of 1 year
Correlations between primary outcomes and CCFS.
Through study completion, an average of 1 year
SCA Functional Index
Time Frame: Through study completion, an average of 1 year
Correlations between primary outcomes and SCAFI.
Through study completion, an average of 1 year
Friedreich Ataxia Rating Scale part II (FARS part II)
Time Frame: Through study completion, an average of 1 year
Correlations between primary outcomes and Activities of Daily Living from FARS part II.
Through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Hospital de Clinicas de Porto Alegre

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Laura B. Jardim, MD, PhD, Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 13, 2019

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
February 1, 2021

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
August 1, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 8, 2020

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 15, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 19, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 19, 2021

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 15, 2021

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 20190606

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

IPD Plan Description

Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities.

IPD Sharing Time Frame

Data will become available after final statistical analysis and data publishing via direct contact with principal investigator.

IPD Sharing Access Criteria

Investigators and researchers of the area

IPD Sharing Supporting Information Type

  • Study Protocol
  • Informed Consent Form (ICF)
  • Clinical Study Report (CSR)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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