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

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 (mRNA) of candidate genes (CCL11, TNFSF14, FCGR3B, CLC, and SLA) (and their peptide products, when possible), and eotaxin and S100B serum levels, in order to determine which of them is (are) the most sensitive. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls).

Conditions

• Spinocerebellar Ataxia Type 3
• Machado-Joseph Disease
• SCA3
• MJD

Interventions

DIAGNOSTIC_TEST

Molecular Diagnosis

Double-blind molecular diagnosis for the SCA3/MJD mutation.

DIAGNOSTIC_TEST

Clinical Scales - Baseline

SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied on baseline.

DIAGNOSTIC_TEST

Blood Draw - Baseline

Blood collection on baseline for evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins

DIAGNOSTIC_TEST

Quality of Life Assessment - Baseline

Participants fill out 2 self-reported quality of life questionnaires.

DIAGNOSTIC_TEST

Clinical Scales - Follow-up 12 months

SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 12 months after baseline for prospective evaluation.

DIAGNOSTIC_TEST

Blood Draw - Follow-up 12 months

Blood collection 12 months after baseline for prospective evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins

DIAGNOSTIC_TEST

Quality of Life Assessment - Follow-up 12 months

Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.

DIAGNOSTIC_TEST

Clinical Scales - Follow-up 24 months

SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 24 months after baseline for prospective evaluation.

DIAGNOSTIC_TEST

Blood Draw - Follow-up 24 months

Blood collection 24 months after baseline for prospective evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins

DIAGNOSTIC_TEST

Quality of Life Assessment - Follow-up 24 months

Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.

Sponsors & Collaborators

• Hospital de Clinicas de Porto Alegre

  lead OTHER

Principal Investigators

• Laura B. Jardim, MD, PhD · Hospital de Clinicas de Porto Alegre

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2017-03-18

Primary Completion

2020-12-31

Completion

2021-08-31

Countries

• Brazil

Study Locations