Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
Status: Unknown
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:
• 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.
Locations
Other Locations
Brazil
Hospital de Clinicas de Porto Alegre
RECRUITING
Porto Alegre
Contact Information
Primary
Laura B. Jardim, MD, PhD
ljardim@hcpa.edu.br
+55513359-8011
Backup
Gabriela Bolzan, MD
gbgabrielabolzan@gmail.com
+55513359-8011
Time Frame
Start Date: 2019-12-13
Completion Date: 2023-08-01
Participants
Target number of participants: 144
Treatments
Symptomatic
Molecularly diagnosed SCA3/MJD Symptomatic subjects.
Non-related Controls
Controls matched with symptomatic by age and educational level.
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.
Related Therapeutic Areas
Sponsors
Leads: Hospital de Clinicas de Porto Alegre