Status:

UNKNOWN

Neuropsychiatry and Cognition in SCA3/MJD

Lead Sponsor:

Hospital de Clinicas de Porto Alegre

Conditions:

Spinocerebellar Ataxia Type 3

Machado-Joseph Disease

Eligibility:

All Genders

18+ years

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 h...

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 s...

Eligibility Criteria

Inclusion

  • 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

  • Non agreement in signing the informed consent;
  • Healthy Controls: having any history of genetic disorders in their families or any psychiatric or neurologic disorder.

Key Trial Info

Start Date :

December 13 2019

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

August 1 2023

Estimated Enrollment :

144 Patients enrolled

Trial Details

Trial ID

NCT04714307

Start Date

December 13 2019

End Date

August 1 2023

Last Update

January 19 2021

Active Locations (1)

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Hospital de Clinicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, Brazil, 90035-903