Status:

UNKNOWN

Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes

Lead Sponsor:

Hospital de Clinicas de Porto Alegre

Conditions:

Spinocerebellar Ataxia Type 3

Machado-Joseph Disease

Eligibility:

All Genders

18+ years

Brief Summary

The study will consist of a prospective observation of subjects in a natural history design. The investigators will monitor changes of clinical scales, quality of life, messenger ribonucleic acid (mRN...

Detailed Description

Spinocerebellar ataxia type 3, or Machado-Joseph disease (SCA3/MJD), is an autosomal dominant neurodegenerative disorder caused by a CAG expansion at ATXN3. The gene product is a 42kDa protein called ...

Eligibility Criteria

Inclusion

  • Individuals with molecular diagnosis of SCA3/MJD
  • Individuals at 50% risk of inheriting SCA3/MJD mutation without any clinical manifestation

Exclusion

  • Refusal to sign informed consent
  • Other diagnosed neurological conditions;
  • Diabetes Mellitus;
  • Chronic allergy (asthma, eczema, urticaria)
  • Eosinophilia on baseline

Key Trial Info

Start Date :

March 18 2017

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

August 1 2021

Estimated Enrollment :

95 Patients enrolled

Trial Details

Trial ID

NCT04419974

Start Date

March 18 2017

End Date

August 1 2021

Last Update

June 9 2020

Active Locations (1)

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Hospital de Clinicas de Porto Alegre

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