Spinocerebellar Ataxia Type 3NCT04714307
Neuropsychiatry and Cognition in SCA3/MJD
An observational study of Spinocerebellar Ataxia Type 3 and Machado-Joseph Disease, run by Hospital de Clinicas de Porto Alegre at 1 site in Brazil.
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinocerebellar Ataxia Type 3, Machado-Joseph Disease, SCA3
- What is being tested?
- SCA3/MJD molecular diagnosis, Cognitive Testing and Psychiatric Evaluation
- How many people
- 144 participants
- Where
- 1 siteBrazil
- Study dates
- 13 Dec 2019to 1 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- Symptomatic:
- older than 18 year old;
- molecular diagnosis of SCA3/MJD;
- SARA>2.5.
- At 50% risk:
- older than 18 year old;
Show all 11Show fewer
- 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.
Who cannot join
- Non agreement in signing the informed consent;
- Healthy Controls: having any history of genetic disorders in their families or any psychiatric or neurologic disorder.
Trial locations and contacts
1 site in 1 country.
Brazil1 site, 1 recruiting
- Recruiting
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, 90035-903
Laura B. Jardim, MD, PhD, +555133598011, ljardim@hcpa.edu.br
Gabriela Bolzan, MD, +555133598011, gbgabrielabolzan@gmail.com
About this study
Official title: 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.
Read the 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
- Being tested
- SCA3/MJD molecular diagnosis, Cognitive Testing, Psychiatric Evaluation, Clinical Neurological Evaluation, Emotional Attribution Evaluation
- Medical subject headings
- Machado-Joseph Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SCA3/MJD molecular diagnosisDiagnostic test
Double-blind molecular diagnosis for determination of the presence of the mutation.
Cognitive TestingDiagnostic test
Cross-sectional Cognitive evaluation with
- CCAS Scale
- Trail-Making Test parts A and B
- Stroop Color-Word Test
Psychiatric EvaluationDiagnostic test
Cross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales.
Clinical Neurological EvaluationDiagnostic test
Cross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS.
Emotional Attribution EvaluationDiagnostic test
Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).
Activities of Daily LivingDiagnostic test
Cross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II.
| Study group | Role | What they receive |
|---|---|---|
| Symptomatic | Molecularly diagnosed SCA3/MJD Symptomatic subjects. Receives: 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. Receives: 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. Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Through study completion, an average of 1 year
Secondary outcomes (4)
Scale for the Assessment and Rating of Ataxia (SARA)
Correlations between primary outcomes and SARA.
Measured: Through study completion, an average of 1 year
Composite Cerebellar Functional Severity Score (CCFS)
Correlations between primary outcomes and CCFS.
Measured: Through study completion, an average of 1 year
SCA Functional Index
Correlations between primary outcomes and SCAFI.
Measured: Through study completion, an average of 1 year
Friedreich Ataxia Rating Scale part II (FARS part II)
Correlations between primary outcomes and Activities of Daily Living from FARS part II.
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2021
- Study start13 Dec 2019
- Primary completion1 Feb 2021 (estimated)
- Study completion1 Aug 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinocerebellar Ataxia Type 3Studies of the same condition, open and under way.
- More trials run by Hospital de Clinicas de Porto AlegreThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 144 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital de Clinicas de Porto Alegre
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Laura B. Jardim, MD, PhD, Principal investigator, Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04714307
- Sponsor's protocol ID
- 20190606
- Status last verified
- Jan 2021
- First submitted
- 8 Dec 2020
- Last updated
- 19 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities.
Study at a glance
From the registry record, last updated by the sponsor on 19 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
- ClinicalTrials.gov ID
- NCT04714307
- Acronym / sponsor ID
- 20190606
- Conditions
- Spinocerebellar Ataxia Type 3, Machado-Joseph Disease, SCA3, MJD
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 144 participants (estimated)
- Lead sponsor
- Hospital de Clinicas de Porto AlegreUniversity, hospital or other
- Study start
- 13 Dec 2019 (actual)
- Primary completion
- 1 Feb 2021 (estimated)
- Study completion
- 1 Aug 2023 (estimated)
- First posted
- 19 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Symptomatic | – | Diagnostic Test: Cognitive Testing, Diagnostic Test: Psychiatric Evaluation, Diagnostic Test: Clinical Neurological Evaluation, Diagnostic Test: Emotional Attribution Evaluation, Diagnostic Test: Activities of Daily LivingMolecularly diagnosed SCA3/MJD Symptomatic subjects. |
| Non-related Controls | – | Diagnostic Test: Cognitive Testing, Diagnostic Test: Psychiatric Evaluation, Diagnostic Test: Emotional Attribution EvaluationControls matched with symptomatic by age and educational level. |
| At 50% risk for SCA3/MJD group | – | 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 LivingThe 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (11 listed)
- Symptomatic:
- older than 18 year old;
- molecular diagnosis of SCA3/MJD;
- SARA>2.5.
- At 50% risk:
Key exclusion criteria (2 listed)
- Non agreement in signing the informed consent;
- Healthy Controls: having any history of genetic disorders in their families or any psychiatric or neurologic disorder.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SCA3/MJD molecular diagnosisDouble-blind molecular diagnosis for determination of the presence of the mutation. | Diagnostic test | At 50% risk for SCA3/MJD group |
| Cognitive TestingCross-sectional Cognitive evaluation with * CCAS Scale * Trail-Making Test parts A and B * Stroop Color-Word Test | Diagnostic test | At 50% risk for SCA3/MJD group, Non-related Controls, Symptomatic |
| Psychiatric EvaluationCross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales. | Diagnostic test | At 50% risk for SCA3/MJD group, Non-related Controls, Symptomatic |
| Clinical Neurological EvaluationCross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS. | Diagnostic test | At 50% risk for SCA3/MJD group, Symptomatic |
| Emotional Attribution EvaluationCross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET). | Diagnostic test | At 50% risk for SCA3/MJD group, Non-related Controls, Symptomatic |
| Activities of Daily LivingCross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II. | Diagnostic test | At 50% risk for SCA3/MJD group, Symptomatic |
Primary outcome
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.
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.
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.
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.
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.
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.
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.
4 secondary outcomes
Scale for the Assessment and Rating of Ataxia (SARA)
Time frame: Through study completion, an average of 1 year
Composite Cerebellar Functional Severity Score (CCFS)
Time frame: Through study completion, an average of 1 year
SCA Functional Index
Time frame: 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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jan 2021.
- Individual participant dataSharing planned: Yes. Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura B. Jardim, MD, PhD principal investigator
Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinocerebellar Ataxia Type 3 and Machado-Joseph Disease, run by Hospital de Clinicas de Porto Alegre at 1 site in Brazil.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Jan 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Laura B. Jardim, MD, PhD (+55513359-8011, ljardim@hcpa.edu.br), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cerebellar Cognitive Affective Syndrome Scale (time frame: Through study completion, an average of 1 year). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jan 2021.