Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes
Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes
1 other identifier
observational
95
1 country
1
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 (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).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Mar 2017
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 18, 2017
CompletedFirst Submitted
Initial submission to the registry
April 7, 2020
CompletedFirst Posted
Study publicly available on registry
June 9, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
August 1, 2021
CompletedJune 9, 2020
June 1, 2020
3.7 years
April 7, 2020
June 3, 2020
Conditions
Keywords
Outcome Measures
Primary Outcomes (6)
Change in serum concentrations of Eotaxin
pg/ml
24 months
Change in serum concentrations of S100B
ÎĽg/l
24 months
Change in expression of TNFSF14
Fold change (FC)
24 months
Change in expression of CCL11
Fold change (FC)
24 months
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
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 Outcomes (3)
Change in expression of FCGR3B
24 months
Change in expression of CLC
24 months
Change in expression of SLA
24 months
Study Arms (3)
Ataxic carriers
Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of 3 points or more.
Pre-ataxic carriers
Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of less than 3 points.
Related controls
Subjects without a CAG repeat expansion on ATXN3, but with a first degree relative affected by the disease.
Interventions
Double-blind molecular diagnosis for the SCA3/MJD mutation.
SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied on baseline.
Blood collection on baseline for evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins
Participants fill out 2 self-reported quality of life questionnaires.
SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 12 months after baseline for prospective evaluation.
Blood collection 12 months after baseline for prospective evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins
Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.
SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 24 months after baseline for prospective evaluation.
Blood collection 24 months after baseline for prospective evaluation of * Candidate genes expression * Serum proteins * Lymphocytic proteins
Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.
Eligibility Criteria
Individuals with molecular diagnosis of SCA3/MJD will be recruited from the Medical Genetics Service database of Hospital de ClĂnicas de Porto Alegre, Brazil, by telephone calls or by invitation in the outpatient clinic. First degree relatives of these subjects at 50% risk of carrying the mutation will also be invited to participate.
You may qualify if:
- Individuals with molecular diagnosis of SCA3/MJD
- Individuals at 50% risk of inheriting SCA3/MJD mutation without any clinical manifestation
You may not qualify if:
- Refusal to sign informed consent
- Other diagnosed neurological conditions;
- Diabetes Mellitus;
- Chronic allergy (asthma, eczema, urticaria)
- Eosinophilia on baseline
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, 90035-903, Brazil
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Laura B. Jardim, MD, PhD
Hospital de Clinicas de Porto Alegre
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 7, 2020
First Posted
June 9, 2020
Study Start
March 18, 2017
Primary Completion
December 1, 2020
Study Completion
August 1, 2021
Last Updated
June 9, 2020
Record last verified: 2020-06
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, ICF, CSR
- Time Frame
- Data will become available after final statistical analysis and data publishing via direct contact with principal investigator
- Access Criteria
- Investigators and researchers of the area
Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities