Machado-Joseph Disease, MJD, SCA3, Spinocerebellar Ataxia Type 3
Conditions
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.
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.
Interventions
DIAGNOSTIC_TESTSCA3/MJD molecular diagnosis
Double-blind molecular diagnosis for determination of the presence of the mutation.
DIAGNOSTIC_TESTCognitive Testing
Cross-sectional Cognitive evaluation with * CCAS Scale * Trail-Making Test parts A and B * Stroop Color-Word Test
DIAGNOSTIC_TESTPsychiatric Evaluation
Cross-sectional Psychiatric evaluation with Hamilton-Anxiety and Hamilton-Depression rating scales.
DIAGNOSTIC_TESTClinical Neurological Evaluation
Cross-sectional neurological evaluation with standardized clinical scales - SARA, SCAFI and CCFS.
DIAGNOSTIC_TESTEmotional Attribution Evaluation
Cross-sectional emotional attribution evaluation by means of the Reading the Mind in the Eyes Test (RMET).
DIAGNOSTIC_TESTActivities of Daily Living
Cross-sectional evaluation of Activities of Daily Living (ADLs) by means of Friedreich Ataxia Rating Scale Part II.
Sponsors
Hospital de Clinicas de Porto Alegre
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Hamilton Depression Rating Scale | 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. |
| Stroop Color-Word Test | 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 | 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 | 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 | 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. |
| Cerebellar Cognitive Affective Syndrome Scale | 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 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Composite Cerebellar Functional Severity Score (CCFS) | Through study completion, an average of 1 year | Correlations between primary outcomes and CCFS. |
| SCA Functional Index | Through study completion, an average of 1 year | Correlations between primary outcomes and SCAFI. |
| Friedreich Ataxia Rating Scale part II (FARS part II) | Through study completion, an average of 1 year | Correlations between primary outcomes and Activities of Daily Living from FARS part II. |
| Scale for the Assessment and Rating of Ataxia (SARA) | Through study completion, an average of 1 year | Correlations between primary outcomes and SARA. |
Countries
Brazil
Contacts
Primary ContactLaura B. Jardim, MD, PhD
Backup ContactGabriela Bolzan, MD
Outcome results
None listed