<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04419974</url>
  </required_header>
  <id_info>
    <org_study_id>20170014</org_study_id>
    <nct_id>NCT04419974</nct_id>
  </id_info>
  <brief_title>Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes</brief_title>
  <official_title>Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Hospital de Clinicas de Porto Alegre</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Hospital de Clinicas de Porto Alegre</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The study will consist of a prospective observation of subjects in a natural history design.&#xD;
      The investigators will monitor changes of clinical scales, quality of life, messenger&#xD;
      ribonucleic acid (mRNA) of candidate genes (CCL11, TNFSF14, FCGR3B, CLC, and SLA) (and their&#xD;
      peptide products, when possible), and eotaxin and S100B serum levels, in order to determine&#xD;
      which of them is (are) the most sensitive. Participants will be stratified in three groups:&#xD;
      ataxic carriers, pre-ataxic carriers and non-carriers (controls).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Spinocerebellar ataxia type 3, or Machado-Joseph disease (SCA3/MJD), is an autosomal dominant&#xD;
      neurodegenerative disorder caused by a CAG expansion at ATXN3. The gene product is a 42kDa&#xD;
      protein called ataxin-3, widely expressed in neurons and peripheral tissues. Physiological&#xD;
      roles of ataxin-3 include, at least, ubiquitination and regulation of misfolded proteins,&#xD;
      cytoskeletal organization and focal adhesions development, and transcriptional regulation,&#xD;
      most often as a transcriptional corepressor. One purpose of the present study is to detect a&#xD;
      possible association between altered transcription patterns of candidate genes and disease&#xD;
      progression. On the other hand, previous evidences suggest that the disease process linked to&#xD;
      polyQ aggregation in neuronal cell (&quot;cell-autonomous process&quot;) might be worsened by what&#xD;
      happens outside the neuronal cell (&quot;non-cell-autonomous process&quot;). Initial evidences lead to&#xD;
      the role of astrocytes. This is a major depart from the traditional understanding of&#xD;
      polyglutamine diseases, and comprises the main focus of the present study.&#xD;
&#xD;
      The main hypothesis of this study is that the SCA3/MJD clinical features may be in part&#xD;
      associated to astrocytic processes. In order to test it, peripheral level of LIGHT protein&#xD;
      (encoded by TNFSF14) and eotaxin (encoded by CCL11) - both expressed in astrocytes -, and of&#xD;
      S100B (a myelin damage marker), will be measured. The investigators speculate if they can be&#xD;
      biomarkers of disease progression and of pathological process, even before symptoms onset. In&#xD;
      case this is positive, their responsiveness to change will be tested to check if it is better&#xD;
      than those of clinical scales.&#xD;
&#xD;
      The second aim is to test if disease progression can be associated with changes in the&#xD;
      transcriptional pattern of candidate genes FCGR3B, CLC and SLA.&#xD;
&#xD;
      &quot;BIGPRO study - Astrocytes&quot; intends to identify variations in these candidates and validate&#xD;
      them as SCA3/MJD biomarkers. The study will consist of a prospective observation of subjects&#xD;
      in a natural history design. Changes in clinical scales, quality of life, messenger&#xD;
      ribonucleic acid (mRNA) of candidate genes (CCL11, TNFSF14, FCGR3B, CLC, and SLA) (and their&#xD;
      peptide products, when possible), and eotaxin and S100B serum levels will be monitored in&#xD;
      order to determine which of them is (are) the most sensitive. Participants will be stratified&#xD;
      in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls). For each&#xD;
      asymptomatic carrier, the time until start of disease will be estimated according to the&#xD;
      individual CAG expanded sequence (CAGexp) and subject's age. Clinical scales Scale for the&#xD;
      Assessment and Rating of Ataxia (SARA), Neurological Examination Scale for SCA (NESSCA),&#xD;
      International Co-operative Rating Scale (ICARS), Inventory of Non-ataxia Symptoms (INAS), SCA&#xD;
      Functional Index (SCAFI), Composite Cerebellar Functional Severity Score (CCFS) and Quality&#xD;
      of Life measurements (EQ-5D and SF-36), will be applied at baseline, at 12 months and at 24&#xD;
      months, in all subjects (all three groups). Eotaxin, TNFSF14, S100B and mRNAs, will be&#xD;
      measured in the same moments. Progression rates of all these variables will be estimated&#xD;
      through mixed-models, including, as covariates, age, group and their interactions.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Active, not recruiting</last_known_status>
  <start_date type="Actual">March 18, 2017</start_date>
  <completion_date type="Anticipated">August 2021</completion_date>
  <primary_completion_date type="Anticipated">December 2020</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Change in serum concentrations of Eotaxin</measure>
    <time_frame>24 months</time_frame>
    <description>pg/ml</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in serum concentrations of S100B</measure>
    <time_frame>24 months</time_frame>
    <description>μg/l</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in expression of TNFSF14</measure>
    <time_frame>24 months</time_frame>
    <description>Fold change (FC)</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in expression of CCL11</measure>
    <time_frame>24 months</time_frame>
    <description>Fold change (FC)</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in EQ-5D-3L (EuroQoL 5 Domains evaluated in 3 levels)</measure>
    <time_frame>24 months</time_frame>
    <description>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.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Change in SF-36 (Short-form 36)</measure>
    <time_frame>24 months</time_frame>
    <description>Quality of life scale evaluating 8 domains through 36 questions. Domain scores decrease with worsening in quality of life.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Change in expression of FCGR3B</measure>
    <time_frame>24 months</time_frame>
    <description>Fold change (FC)</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in expression of CLC</measure>
    <time_frame>24 months</time_frame>
    <description>Fold change (FC)</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in expression of SLA</measure>
    <time_frame>24 months</time_frame>
    <description>Fold change (FC)</description>
  </secondary_outcome>
  <number_of_groups>3</number_of_groups>
  <enrollment type="Actual">95</enrollment>
  <condition>Spinocerebellar Ataxia Type 3</condition>
  <condition>Machado-Joseph Disease</condition>
  <condition>SCA3</condition>
  <condition>MJD</condition>
  <arm_group>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <description>Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of 3 points or more.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <description>Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of less than 3 points.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Related controls</arm_group_label>
    <description>Subjects without a CAG repeat expansion on ATXN3, but with a first degree relative affected by the disease.</description>
  </arm_group>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Molecular Diagnosis</intervention_name>
    <description>Double-blind molecular diagnosis for the SCA3/MJD mutation.</description>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Clinical Scales - Baseline</intervention_name>
    <description>SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied on baseline.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Blood Draw - Baseline</intervention_name>
    <description>Blood collection on baseline for evaluation of&#xD;
Candidate genes expression&#xD;
Serum proteins&#xD;
Lymphocytic proteins</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Quality of Life Assessment - Baseline</intervention_name>
    <description>Participants fill out 2 self-reported quality of life questionnaires.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Clinical Scales - Follow-up 12 months</intervention_name>
    <description>SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 12 months after baseline for prospective evaluation.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Blood Draw - Follow-up 12 months</intervention_name>
    <description>Blood collection 12 months after baseline for prospective evaluation of&#xD;
Candidate genes expression&#xD;
Serum proteins&#xD;
Lymphocytic proteins</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Quality of Life Assessment - Follow-up 12 months</intervention_name>
    <description>Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Clinical Scales - Follow-up 24 months</intervention_name>
    <description>SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 24 months after baseline for prospective evaluation.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Blood Draw - Follow-up 24 months</intervention_name>
    <description>Blood collection 24 months after baseline for prospective evaluation of&#xD;
Candidate genes expression&#xD;
Serum proteins&#xD;
Lymphocytic proteins</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Quality of Life Assessment - Follow-up 24 months</intervention_name>
    <description>Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.</description>
    <arm_group_label>Ataxic carriers</arm_group_label>
    <arm_group_label>Pre-ataxic carriers</arm_group_label>
    <arm_group_label>Related controls</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Individuals with molecular diagnosis of SCA3/MJD will be recruited from the Medical&#xD;
        Genetics Service database of Hospital de Clínicas de Porto Alegre, Brazil, by telephone&#xD;
        calls or by invitation in the outpatient clinic. First degree relatives of these subjects&#xD;
        at 50% risk of carrying the mutation will also be invited to participate.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Individuals with molecular diagnosis of SCA3/MJD&#xD;
&#xD;
          -  Individuals at 50% risk of inheriting SCA3/MJD mutation without any clinical&#xD;
             manifestation&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Refusal to sign informed consent&#xD;
&#xD;
          -  Other diagnosed neurological conditions;&#xD;
&#xD;
          -  Diabetes Mellitus;&#xD;
&#xD;
          -  Chronic allergy (asthma, eczema, urticaria)&#xD;
&#xD;
          -  Eosinophilia on baseline&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Laura B. Jardim, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hospital de Clinicas de Porto Alegre</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Hospital de Clinicas de Porto Alegre</name>
      <address>
        <city>Porto Alegre</city>
        <state>Rio Grande Do Sul</state>
        <zip>90035-903</zip>
        <country>Brazil</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Brazil</country>
  </location_countries>
  <link>
    <url>https://bigpro.webnode.com/</url>
    <description>Official project website</description>
  </link>
  <verification_date>June 2020</verification_date>
  <study_first_submitted>April 7, 2020</study_first_submitted>
  <study_first_submitted_qc>June 3, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 9, 2020</study_first_posted>
  <last_update_submitted>June 3, 2020</last_update_submitted>
  <last_update_submitted_qc>June 3, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">June 9, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>SCA3/MJD</keyword>
  <keyword>SCA3</keyword>
  <keyword>MJD</keyword>
  <keyword>natural history</keyword>
  <keyword>cytokines</keyword>
  <keyword>astrocytes</keyword>
  <keyword>quality of life</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Spinocerebellar Ataxias</mesh_term>
    <mesh_term>Spinocerebellar Degenerations</mesh_term>
    <mesh_term>Machado-Joseph Disease</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities</ipd_description>
    <ipd_info_type>Study Protocol</ipd_info_type>
    <ipd_info_type>Informed Consent Form (ICF)</ipd_info_type>
    <ipd_info_type>Clinical Study Report (CSR)</ipd_info_type>
    <ipd_time_frame>Data will become available after final statistical analysis and data publishing via direct contact with principal investigator</ipd_time_frame>
    <ipd_access_criteria>Investigators and researchers of the area</ipd_access_criteria>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04419974
org study id: 20170014
nct id: NCT04419974
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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).
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 ataxin-3, widely expressed in neurons and peripheral tissues. Physiological
      roles of ataxin-3 include, at least, ubiquitination and regulation of misfolded proteins,
      cytoskeletal organization and focal adhesions development, and transcriptional regulation,
      most often as a transcriptional corepressor. One purpose of the present study is to detect a
      possible association between altered transcription patterns of candidate genes and disease
      progression. On the other hand, previous evidences suggest that the disease process linked to
      polyQ aggregation in neuronal cell ("cell-autonomous process") might be worsened by what
      happens outside the neuronal cell ("non-cell-autonomous process"). Initial evidences lead to
      the role of astrocytes. This is a major depart from the traditional understanding of
      polyglutamine diseases, and comprises the main focus of the present study.

      The main hypothesis of this study is that the SCA3/MJD clinical features may be in part
      associated to astrocytic processes. In order to test it, peripheral level of LIGHT protein
      (encoded by TNFSF14) and eotaxin (encoded by CCL11) - both expressed in astrocytes -, and of
      S100B (a myelin damage marker), will be measured. The investigators speculate if they can be
      biomarkers of disease progression and of pathological process, even before symptoms onset. In
      case this is positive, their responsiveness to change will be tested to check if it is better
      than those of clinical scales.

      The second aim is to test if disease progression can be associated with changes in the
      transcriptional pattern of candidate genes FCGR3B, CLC and SLA.

      "BIGPRO study - Astrocytes" intends to identify variations in these candidates and validate
      them as SCA3/MJD biomarkers. The study will consist of a prospective observation of subjects
      in a natural history design. Changes in 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 will be monitored 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). For each
      asymptomatic carrier, the time until start of disease will be estimated according to the
      individual CAG expanded sequence (CAGexp) and subject's age. Clinical scales Scale for the
      Assessment and Rating of Ataxia (SARA), Neurological Examination Scale for SCA (NESSCA),
      International Co-operative Rating Scale (ICARS), Inventory of Non-ataxia Symptoms (INAS), SCA
      Functional Index (SCAFI), Composite Cerebellar Functional Severity Score (CCFS) and Quality
      of Life measurements (EQ-5D and SF-36), will be applied at baseline, at 12 months and at 24
      months, in all subjects (all three groups). Eotaxin, TNFSF14, S100B and mRNAs, will be
      measured in the same moments. Progression rates of all these variables will be estimated
      through mixed-models, including, as covariates, age, group and their interactions.
observational model: Cohort
time perspective: Prospective
measure: Change in serum concentrations of Eotaxin
time frame: 24 months
description: pg/ml
measure: Change in serum concentrations of S100B
time frame: 24 months
description: μg/l
measure: Change in expression of TNFSF14
time frame: 24 months
description: Fold change (FC)
measure: Change in expression of CCL11
time frame: 24 months
description: Fold change (FC)
measure: Change in EQ-5D-3L (EuroQoL 5 Domains evaluated in 3 levels)
time frame: 24 months
description: 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.
measure: Change in SF-36 (Short-form 36)
time frame: 24 months
description: Quality of life scale evaluating 8 domains through 36 questions. Domain scores decrease with worsening in quality of life.
measure: Change in expression of FCGR3B
time frame: 24 months
description: Fold change (FC)
measure: Change in expression of CLC
time frame: 24 months
description: Fold change (FC)
measure: Change in expression of SLA
time frame: 24 months
description: Fold change (FC)
arm group label: Ataxic carriers
description: Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of 3 points or more.
arm group label: Pre-ataxic carriers
description: Subjects with a CAG repeat expansion on ATXN3 and Scale for Assessment and Rating of Ataxia (SARA) of less than 3 points.
arm group label: Related controls
description: Subjects without a CAG repeat expansion on ATXN3, but with a first degree relative affected by the disease.
intervention type: Diagnostic Test
intervention name: Molecular Diagnosis
description: Double-blind molecular diagnosis for the SCA3/MJD mutation.
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Clinical Scales - Baseline
description: SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied on baseline.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Blood Draw - Baseline
description: Blood collection on baseline for evaluation of
Candidate genes expression
Serum proteins
Lymphocytic proteins
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Quality of Life Assessment - Baseline
description: Participants fill out 2 self-reported quality of life questionnaires.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Clinical Scales - Follow-up 12 months
description: SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 12 months after baseline for prospective evaluation.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Blood Draw - Follow-up 12 months
description: Blood collection 12 months after baseline for prospective evaluation of
Candidate genes expression
Serum proteins
Lymphocytic proteins
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Quality of Life Assessment - Follow-up 12 months
description: Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Clinical Scales - Follow-up 24 months
description: SARA, NESSCA, ICARS, INAS, SCAFI, CCFS will be applied 24 months after baseline for prospective evaluation.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Blood Draw - Follow-up 24 months
description: Blood collection 24 months after baseline for prospective evaluation of
Candidate genes expression
Serum proteins
Lymphocytic proteins
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
intervention type: Diagnostic Test
intervention name: Quality of Life Assessment - Follow-up 24 months
description: Participants fill out 2 self-reported quality of life questionnaires for prospective evaluation.
arm group label: Ataxic carriers
arm group label: Pre-ataxic carriers
arm group label: Related controls
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Laura B. Jardim, MD, PhD
role: Principal Investigator
affiliation: Hospital de Clinicas de Porto Alegre
facility: 
country: Brazil
url: https://bigpro.webnode.com/
description: Official project website
responsible party type: Sponsor
mesh term: Spinocerebellar Ataxias
mesh term: Spinocerebellar Degenerations
mesh term: Machado-Joseph Disease
sharing ipd: Yes
ipd description: Data sharing will be done via direct contact with the Principal Investigator in order to preserve individual participants identities
ipd info type: Study Protocol
ipd info type: Informed Consent Form (ICF)
ipd info type: Clinical Study Report (CSR)
ipd time frame: Data will become available after final statistical analysis and data publishing via direct contact with principal investigator
ipd access criteria: Investigators and researchers of the area