Clinical trial NCT04714307: Neuropsychiatry and Cognition in SCA3/MJD
Official title: Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Spinocerebellar Ataxia Type 3
Machado-Joseph Disease
SCA3
MJD
Lead sponsor: Hospital de Clinicas de Porto Alegre
Sponsor class: OTHER
First posted: 2021-01-19
Enrollment: 144
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
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.

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.

Eligibility 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.

Primary outcomes:
measure: Cerebellar Cognitive Affective Syndrome Scale
timeFrame: Through study completion, an average of 1 year
measure: Trail-Making Test Part A and B
timeFrame: Through study completion, an average of 1 year
measure: Stroop Color-Word Test
timeFrame: Through study completion, an average of 1 year
measure: Emotion Attribution impairment in SCA3/MJD
timeFrame: Through study completion, an average of 1 year
measure: Emotion Attribution in different phases of the disease
timeFrame: Through study completion, an average of 1 year
measure: Hamilton Anxiety Rating Scale
timeFrame: Through study completion, an average of 1 year
measure: Hamilton Depression Rating Scale
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
measure: Scale for the Assessment and Rating of Ataxia (SARA)
timeFrame: Through study completion, an average of 1 year
measure: Composite Cerebellar Functional Severity Score (CCFS)
timeFrame: Through study completion, an average of 1 year
measure: SCA Functional Index
timeFrame: Through study completion, an average of 1 year
measure: Friedreich Ataxia Rating Scale part II (FARS part II)
timeFrame: Through study completion, an average of 1 year
Other outcomes:
Locations:
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Alegre
state: Rio Grande Do Sul
Study officials:
affiliation: Hospital de Clinicas de Porto Alegre and Universidade Federal do Rio Grande do Sul
name: Laura B. Jardim, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: