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Neuropsychiatry and Cognition in SCA3/MJD

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ClinicalTrials.gov Identifier: NCT04714307
Recruitment Status : Recruiting
First Posted : January 19, 2021
Last Update Posted : January 19, 2021
Sponsor:
Information provided by (Responsible Party):
Hospital de Clinicas de Porto Alegre

Study Description
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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.

Condition or disease Intervention/treatment
Spinocerebellar Ataxia Type 3 Machado-Joseph Disease SCA3 MJD 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

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 Design
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Study Type : Observational
Estimated Enrollment : 144 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
Actual Study Start Date : December 13, 2019
Estimated Primary Completion Date : February 1, 2021
Estimated Study Completion Date : August 1, 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
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: 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.


Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.


Secondary Outcome Measures :
  1. 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.

  2. Composite Cerebellar Functional Severity Score (CCFS) [ Time Frame: Through study completion, an average of 1 year ]
    Correlations between primary outcomes and CCFS.

  3. SCA Functional Index [ Time Frame: Through study completion, an average of 1 year ]
    Correlations between primary outcomes and SCAFI.

  4. 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.


Biospecimen Retention:   Samples With DNA
Blood samples will be retained under codification for the use of this research only.

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04714307


Contacts
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Contact: Laura B. Jardim, MD, PhD +55513359-8011 ljardim@hcpa.edu.br
Contact: Gabriela Bolzan, MD +55513359-8011 gbgabrielabolzan@gmail.com

Locations
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Brazil
Hospital de Clinicas de Porto Alegre Recruiting
Porto Alegre, Rio Grande Do Sul, Brazil, 90035-903
Contact: Laura B. Jardim, MD, PhD    +555133598011    ljardim@hcpa.edu.br   
Contact: Gabriela Bolzan, MD    +555133598011    gbgabrielabolzan@gmail.com   
Principal Investigator: Laura B. Jardim, MD, PhD         
Sub-Investigator: Gabriela Bolzan, MD         
Sponsors and Collaborators
Hospital de Clinicas de Porto Alegre
Investigators
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Principal Investigator: Laura B. Jardim, MD, PhD Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul
More Information
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Responsible Party: Hospital de Clinicas de Porto Alegre
ClinicalTrials.gov Identifier: NCT04714307    
Other Study ID Numbers: 20190606
First Posted: January 19, 2021    Key Record Dates
Last Update Posted: January 19, 2021
Last Verified: January 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities.
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Clinical Study Report (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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Machado-Joseph Disease
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Cerebellar Ataxia
 Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn