Spinocerebellar Ataxia Type 3 Clinical Trial
Official title:
Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes
Verified date | June 2020 |
Source | Hospital de Clinicas de Porto Alegre |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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).
Status | Active, not recruiting |
Enrollment | 95 |
Est. completion date | August 2021 |
Est. primary completion date | December 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Years and older |
Eligibility |
Inclusion Criteria: - Individuals with molecular diagnosis of SCA3/MJD - Individuals at 50% risk of inheriting SCA3/MJD mutation without any clinical manifestation Exclusion Criteria: - Refusal to sign informed consent - Other diagnosed neurological conditions; - Diabetes Mellitus; - Chronic allergy (asthma, eczema, urticaria) - Eosinophilia on baseline |
Country | Name | City | State |
---|---|---|---|
Brazil | Hospital de Clinicas de Porto Alegre | Porto Alegre | Rio Grande Do Sul |
Lead Sponsor | Collaborator |
---|---|
Hospital de Clinicas de Porto Alegre |
Brazil,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in serum concentrations of Eotaxin | pg/ml | 24 months | |
Primary | Change in serum concentrations of S100B | µg/l | 24 months | |
Primary | Change in expression of TNFSF14 | Fold change (FC) | 24 months | |
Primary | Change in expression of CCL11 | Fold change (FC) | 24 months | |
Primary | Change in EQ-5D-3L (EuroQoL 5 Domains evaluated in 3 levels) | Quality of life scale evaluating 5 domains and a visual analog scale. Domain scores increase with worsening in quality of life. In the visual analog scale, worse scores mean decrease in quality of life. | 24 months | |
Primary | Change in SF-36 (Short-form 36) | Quality of life scale evaluating 8 domains through 36 questions. Domain scores decrease with worsening in quality of life. | 24 months | |
Secondary | Change in expression of FCGR3B | Fold change (FC) | 24 months | |
Secondary | Change in expression of CLC | Fold change (FC) | 24 months | |
Secondary | Change in expression of SLA | Fold change (FC) | 24 months |
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