Spinocerebellar Ataxia Type 1READISCANCT03487367
Clinical Trial Readiness for SCA1 and SCA3
An observational study of Spinocerebellar Ataxia Type 1 and Spinocerebellar Ataxia 3, run by The Methodist Hospital Research Institute at 1 site in United States.
Trial summary
The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia 3
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Aug 2018to 31 Dec 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 1. Early stage subjects refer to individuals who tested positive for the SCA1 or SCA3 gene mutation but show signs of ataxia 2. Premanifest mutation carriers refer to individuals who who tested positive for the SCA1 or SCA3 gene mutation but do not show signs of ataxia 3. 50%-at-Risk subjects refer to individuals who are at risk for developing SCA1 or SCA3 because they have an affected family member who tested positive for the gene mutation. 4. Previously diagnosed early stage patients refer to individuals who previously participated between 2009-2012 in the CRC-SCA, ESMI, EUROSCA, or SPATAX studies. At time of previous participation total SARA score must be less than or equal to 10.
Who may be able to join
- Signed informed consent (no study-related procedures may be performed before the subject has signed the consent form).
- Subjects of either sex aged 18 to 65 with presence of symptomatic ataxic disease or asymptomatic mutation carrier or
- Subjects with definite molecular diagnosis of SCA1 or SCA3 or another affected family member
- Subjects of any age with previous diagnosis of Early stage SCA1 and SCA3
- Subjects capable of understanding and complying with protocol requirements
- No changes in physical/occupational therapy status within two months prior to enrollment
Who cannot join
- Subjects currently receiving, or having received within 2 months prior to enrollment into this study, any investigational drug.
- Subjects who do not wish to or cannot comply with study procedures.
- Genotype consistent with other inherited ataxias
- Changes in coordinative physical and occupational therapy for ataxia 2 months prior to study participation
- Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study
- AIM 2 exclusion criteria also includes the inability to undergo MRI scanning and weight over 300lbs, presence of structural abnormalities such as subdural hematoma or primary or metastatic neoplasms and concurrent illnesses or treatment interfering with cognitive function such as stroke or normal pressure hydrocephalus.
Trial locations and contacts
1 site in 1 country.
About this study
The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments. Through US-European collaborations, the investigators will establish the world's largest cohorts of subjects at the earliest disease stages, who will benefit most from treatments, validate an ability to detect disease onset and early progression by imaging markers, even prior to ataxia onset, and identify clinical trial designs that will generate the most conclusive results on treatment efficacy with small populations of patients.
Read the detailed description
Spinocerebellar ataxia types 1 (SCA1) and 3 (SCA3) are rare, inherited neurodegenerative disorders that relentlessly progress to total disability and death. SCA1 is the fastest progressing SCA while SCA3 is the most common SCA in US and Europe. Expanded (CAG)n repeats encoding polyglutamines (polyQ) in the respective genes, Ataxin 1 (ATXN1) and Ataxin 3 (ATXN3), cause SCA1 and SCA3. Disease-modifying therapies that target the pathway upstream of the complex pathogenic cascade will offer ultimate treatment. Scientific premise and preclinical animal data strongly support MSK1 inhibitors for SCA1, citalopram for SCA3, and nucleotide-based gene silencing for both SCAs as drugs to be examined in clinical trials in five years. However, the challenge that investigators face in current clinical trial readiness for such disease-modifying therapies is that the modest effect size of candidate drugs as measured by the Scale for the Assessment and Rating of Ataxia (SARA; the most robust and well-validated clinical outcome assessment measure) requires large cohorts of study subjects to achieve sufficient statistical power. To accomplish the goal of establishing clinical trial readiness, the investigators propose to launch an international, multi-site effort focusing on premanifest mutation carriers and patients in an early disease stage, who are likely responders to the disease-modifying interventions prior to irreversible brain damage. Based on the investigators' studies funded by NIH and the National Ataxia Foundation (NAF), the US ataxia consortium has developed an unprecedented opportunity for tight collaborations with the European Ataxia Study Group to jointly address this challenge and establish clinical trial readiness for SCA1 and SCA3. To achieve this goal, the investigators propose the following specific aims:
Aim 1. Establish the world's largest cohorts of premanifest/early SCA1 and SCA3 by combining cohorts, clinical outcome assessment data and biofluid samples (blood, cerebrospinal fluid) from US and Europe Aim 2. Validate MR morphological, biochemical and functional biomarkers in premanifest and early SCA1 and SCA3 Aim 3. Adapt recent developments on statistical design and analysis of small population trials to SCAs.
- Keywords
- spinocerebellar ataxia, ataxia, ataxias, SCA1, SCA3, spinocerebellar ataxia type 1, spinocerebellar ataxia type 3, READISCA, SCA, SCAs, clinical trial readiness
- Medical subject headings
- Spinocerebellar Ataxias, Machado-Joseph Disease, Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Early stage subjects | This cohort is defined by individuals with a total SARA score of less than or equal to 9.5 | |
| Premanifest mutation carriers | This cohort is defined by the presence of positive genetic diagnosis but no signs of ataxia and total SARA score of less than or equal to 2.5 | |
| 50%-at-risk subjects | This cohort is defined by individuals who are at risk for SCA1 or SCA3 because they have a family member who tested positive for SCA1 or SCA3. Total SARA score is less than or equal to 2.5 | |
| Previously diagnosed early stage | This cohort is defined by individuals who were included in prior CRC-SCA, EUROSCA, ESMI or SPATAX studies who had a total SARA score of less than or equal to 10 in 2009-2012 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in disease progression in SCA1 and SCA3 as determined by change in scale for the assessment and rating of ataxia (SARA) score over time.
Scale for the assessment and rating of ataxia (SARA) was evaluated in two large validation trials performed by the EUROSCA clinical group and was found to be easy to use, reliable and valid. SARA has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia).
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Composite Cerebellar Functional Severity Score (CCFS) total score over time.
Composite Cerebellar Functional Severity Score (CCFS) is a validated quantitative scale used to evaluate cerebellar ataxia in adults and children. Total score calculation includes both the 9-hole pegboard test and the click test. A higher score indicates more severe cerebellar impairment.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in timed 25 foot walk test (T25FW) over time.
Timed 25 foot walk test (T25FW) is a quantitative mobility and leg function performance test based on a timed 25-walk. The T25FW has high inter-rater and test-retest reliability and shows evidence of good concurrent validity. Gait speed in general has been demonstrated to be a useful and reliable functional measure of walking ability.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Cerebellar Cognitive Affective Syndrome (CCAS) score over time.
Cerebellar Cognitive Affective Syndrome Scale (CCAS Scale) is a battery of cognitive tasks used for determining the role of the cerebellum in the regulation of cognitive functions and present the procedure of neuropsychological diagnosis useful in indicating the specific cognitive and emotional problems in patients with cerebellar damage.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Inventory of Non-ataxia Symptoms (INAS) total count over time.
Inventory of Non-ataxia Symptoms (INAS) is a scale utilized in recording the occurrence of accompanying non-ataxia symptoms. In the SARA validation trials, INAS was applied to a large number of SCA patients. Statistical evaluation showed good reliability.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Functional staging score over time.
Functional staging is an instrument used to assess ambulatory capabilities of patients with cerebellar symptoms.
Measured: Every 12 months for approximately 60 months
Change in level of disease activity based on change in cerebellar and brainstem volumes since baseline imaging. (Aim 2)
Change in level of disease activity based on change in cerebellar and brainstem volumes since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on grey matter (GM) and white matter (WM) loss metrics from voxel-based morphometric (VBM) since baseline imaging. (Aim 2)
Change in level of disease activity as defined by change in grey matter volume and white matter volume from voxel-based morphometric data since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on change in metabolite concentrations since baseline imaging. (Aim 2)
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in metabolite concentrations since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on change in fractional isotropy since baseline imaging. (Aim 2)
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in mean diffusivity since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on change in mean diffusivity since baseline imaging. (Aim 2)
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in mean diffusivity since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on change in radial and axial diffusivity since baseline imaging. (Aim 2)
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in radial and axial diffusivity since baseline imaging.
Measured: Every 12 months for approximately 36 months
Change in level of disease activity based on change in degree of co-activation within resting state networks since baseline imaging. (Aim 2)
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in degree of co-activation within resting state network since baseline imaging.
Measured: Every 12 months for approximately 36 months
Secondary outcomes (6)
Change in disease progression in SCA1 and SCA3 as determined by change in Friedreich's Ataxia Activities of Daily Living (FAA-ADL) over time.
Friedreich's Ataxia Activities of Daily Living (FAA-ADL) is an instrument measuring patient reported activities of daily living such as speech, dressing, walking, etc. Activities of daily living can be scored from 0-4, with zero being normal and 4 being most severe.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Fatigue Severity Scale (FSS) over time.
Fatigue Severity Scale (FSS) is a 9 item scale which measures the severity of fatigue and its effect on a person's activities and lifestyle in patients with a variety of disorders. Scale ranges from 1-7, where 1 indicates strongly disagree and 7 indicates strongly agree.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Euro Qol-5D (EQ-5D) over time.
Euro Qol-5D (EQ-5D), a measure developed by the EuroQol Group that generates a single index value for health status with considerable potential for use in health care evaluation.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Patient Health Questionnaire (PHQ-9) over time.
Patient Health Questionnaire (PHQ-9) is a 9-question instrument used to screen for depression. The total of all 9 responses from the PHQ-9 aims to predict the presence and severity of depression.
Measured: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Patient Global Impression (PGI) over time.
Patient Global Impression (PGI) is patient reported measure of change in disease status, walking, hand function and speech since last visit or in the last 6 months. Changes can be reported as worse, stable/same, or improved/better.
Measured: Every 12 months for approximately 60 months
Change in survival at 60 months between and within cohorts
To compare survival of patients between and within cohorts at 60 months
Measured: Baseline to 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Apr 2018
- Study start16 Aug 2018
- Primary completion31 Dec 2023 (estimated)
- Study completion31 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Spinocerebellar Ataxia Type 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Methodist Hospital Research Institute
- Sponsor type
- University, hospital or other
- Collaborators
- University of Michigan, University of Minnesota, University of Utah, University of California, Los Angeles, University of Chicago, University of South Florida, Harvard University, Johns Hopkins University, University of Florida, Columbia University, Emory University, University of California, San Francisco, University of Alabama at Birmingham, University of Colorado, Denver, University of Rochester, Stanford University, Northwestern University, German Center for Neurodegenerative Diseases (DZNE), Institut de Recherche sur la Moelle épinière et l'Encéphale, University of Pennsylvania, Ohio State University, University of Iowa
- Responsible party
- Principal investigator, Tetsuo Ashizawa, MD, The Methodist Hospital Research Institute
- Investigators
- Tetsuo Ashizawa, MD, Study chair, The Methodist Hospital Research InstituteHank Paulson, MD, PhD, Study director, University of MichiganGulin Oz, MD, Study director, University of MinnesotaThomas Klockgether, MD, Study director, University Hospital Bonn - DZNEAlexandra Durr, MD, PhD, Study director, Hôpital Universitaire Pitié-Salpêtrière - ICM/SPATAXSheng Han Kuo, MD, Principal investigator, Columbia UniversityGeorge Wilmot, MD, PhD, Principal investigator, Emory UniversityLiana Rosenthal, MD, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03487367
- Sponsor's protocol ID
- Pro00017836
- Other IDs
- U01 - Ashizawa 2016
- Acronym
- READISCA
- Status last verified
- Jan 2022
- First submitted
- 1 Mar 2018
- Last updated
- 19 Jan 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Paulson HL, Shakkottai VG, Clark HB, Orr HT. Polyglutamine spinocerebellar ataxias - from genes to potential treatments. Nat Rev Neurosci. 2017 Oct;18(10):613-626. doi: 10.1038/nrn.2017.92. Epub 2017 Aug 17.
PubMed 28855740Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.
PubMed 24225362Oz G, Hutter D, Tkac I, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord. 2010 Jul 15;25(9):1253-61. doi: 10.1002/mds.23067.
PubMed 20310029Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Gare I, Jacobi H, Forlani S, Schmitz-Hubsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29.
PubMed 24780882Petit E, Sayah S, Indelicato E, Borel S, Grobe-Einsler M, Faber J, Bischoff AT, Klopstock T, Schulz JB, Reetz K, Schols L, Humphries B, Atencio M, Hilab R, Iskandar A, Buchholz M, Xie F, Klockgether T, Michalowsky B, Boesch S, Durr A, Coarelli G. Cerebellar cognitive-affective syndrome in Friedreich Ataxia. J Neurol. 2026 Jun 16;273(7):400. doi: 10.1007/s00415-026-13786-1.
PubMed 42301528Arpin DJ, Subramony SH; READISCA Consortium; Vaillancourt DE, Ashizawa T, Durr A, Mareci T, Klockgether T, Faber J, Paulson HL, Oz G, Burns MR. Fixel-Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia. Ann Clin Transl Neurol. 2025 Sep;12(9):1846-1857. doi: 10.1002/acn3.70116. Epub 2025 Jul 15.
PubMed 40665587Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Oz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16.
PubMed 36797067
Study at a glance
From the registry record, last updated by the sponsor on 19 Jan 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Trial Readiness for SCA1 and SCA3
- ClinicalTrials.gov ID
- NCT03487367
- Acronym / sponsor ID
- READISCA / Pro00017836
- Keywords
- spinocerebellar ataxia, ataxia, ataxias, SCA1, SCA3, spinocerebellar ataxia type 1, spinocerebellar ataxia type 3, READISCA
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- The Methodist Hospital Research InstituteUniversity, hospital or other
- Collaborators
- University of Michigan, University of Minnesota, University of Utah, University of California, Los Angeles, University of Chicago, University of South Florida, Harvard University, Johns Hopkins University, University of Florida, Columbia University, Emory University, University of California, San Francisco, University of Alabama at Birmingham, University of Colorado, Denver, University of Rochester, Stanford University, Northwestern University, German Center for Neurodegenerative Diseases (DZNE), Institut de Recherche sur la Moelle épinière et l'Encéphale, University of Pennsylvania, Ohio State University, University of Iowa
- Study start
- 16 Aug 2018 (actual)
- Primary completion
- 31 Dec 2023 (estimated)
- Study completion
- 31 Dec 2023 (estimated)
- First posted
- 4 Apr 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments. Through US-European collaborations, the investigators will establish the world's largest cohorts of subjects at the earliest disease stages, who will benefit most from treatments, validate an ability to detect disease onset and early progression by imaging markers, even prior to ataxia onset, and identify clinical trial designs that will generate the most conclusive results on treatment efficacy with small populations of patients.
Detailed description
Spinocerebellar ataxia types 1 (SCA1) and 3 (SCA3) are rare, inherited neurodegenerative disorders that relentlessly progress to total disability and death. SCA1 is the fastest progressing SCA while SCA3 is the most common SCA in US and Europe. Expanded (CAG)n repeats encoding polyglutamines (polyQ) in the respective genes, Ataxin 1 (ATXN1) and Ataxin 3 (ATXN3), cause SCA1 and SCA3. Disease-modifying therapies that target the pathway upstream of the complex pathogenic cascade will offer ultimate treatment. Scientific premise and preclinical animal data strongly support MSK1 inhibitors for SCA1, citalopram for SCA3, and nucleotide-based gene silencing for both SCAs as drugs to be examined in clinical trials in five years. However, the challenge that investigators face in current clinical trial readiness for such disease-modifying therapies is that the modest effect size of candidate drugs as measured by the Scale for the Assessment and Rating of Ataxia (SARA; the most robust and well-validated clinical outcome assessment measure) requires large cohorts of study subjects to achieve sufficient statistical power. To accomplish the goal of establishing clinical trial readiness, the investigators propose to launch an international, multi-site effort focusing on premanifest mutation carriers and patients in an early disease stage, who are likely responders to the disease-modifying interventions prior to irreversible brain damage. Based on the investigators' studies funded by NIH and the National Ataxia Foundation (NAF), the US ataxia consortium has developed an unprecedented opportunity for tight collaborations with the European Ataxia Study Group to jointly address this challenge and establish clinical trial readiness for SCA1 and SCA3. To achieve this goal, the investigators propose the following specific aims:
Aim 1. Establish the world's largest cohorts of premanifest/early SCA1 and SCA3 by combining cohorts, clinical outcome assessment data and biofluid samples (blood, cerebrospinal fluid) from US and Europe Aim 2. Validate MR morphological, biochemical and functional biomarkers in premanifest and early SCA1 and SCA3 Aim 3. Adapt recent developments on statistical design and analysis of small population trials to SCAs.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Early stage subjects | – | –This cohort is defined by individuals with a total SARA score of less than or equal to 9.5 |
| Premanifest mutation carriers | – | –This cohort is defined by the presence of positive genetic diagnosis but no signs of ataxia and total SARA score of less than or equal to 2.5 |
| 50%-at-risk subjects | – | –This cohort is defined by individuals who are at risk for SCA1 or SCA3 because they have a family member who tested positive for SCA1 or SCA3. Total SARA score is less than or equal to 2.5 |
| Previously diagnosed early stage | – | –This cohort is defined by individuals who were included in prior CRC-SCA, EUROSCA, ESMI or SPATAX studies who had a total SARA score of less than or equal to 10 in 2009-2012 |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 1. Early stage subjects refer to individuals who tested positive for the SCA1 or SCA3 gene mutation but show signs of ataxia 2. Premanifest mutation carriers refer to individuals who who tested positive for the SCA1 or SCA3 gene mutation but do not show signs of ataxia 3. 50%-at-Risk subjects refer to individuals who are at risk for developing SCA1 or SCA3 because they have an affected family member who tested positive for the gene mutation. 4. Previously diagnosed early stage patients refer to individuals who previously participated between 2009-2012 in the CRC-SCA, ESMI, EUROSCA, or SPATAX studies. At time of previous participation total SARA score must be less than or equal to 10.
Key inclusion criteria (6 listed)
- Signed informed consent (no study-related procedures may be performed before the subject has signed the consent form).
- Subjects of either sex aged 18 to 65 with presence of symptomatic ataxic disease or asymptomatic mutation carrier or
- Subjects with definite molecular diagnosis of SCA1 or SCA3 or another affected family member
- Subjects of any age with previous diagnosis of Early stage SCA1 and SCA3
- Subjects capable of understanding and complying with protocol requirements
Key exclusion criteria (6 listed)
- Subjects currently receiving, or having received within 2 months prior to enrollment into this study, any investigational drug.
- Subjects who do not wish to or cannot comply with study procedures.
- Genotype consistent with other inherited ataxias
- Changes in coordinative physical and occupational therapy for ataxia 2 months prior to study participation
- Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in disease progression in SCA1 and SCA3 as determined by change in scale for the assessment and rating of ataxia (SARA) score over time.
Time frame: Every 12 months for approximately 60 months
Scale for the assessment and rating of ataxia (SARA) was evaluated in two large validation trials performed by the EUROSCA clinical group and was found to be easy to use, reliable and valid. SARA has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia).
Change in disease progression in SCA1 and SCA3 as determined by change in Composite Cerebellar Functional Severity Score (CCFS) total score over time.
Time frame: Every 12 months for approximately 60 months
Composite Cerebellar Functional Severity Score (CCFS) is a validated quantitative scale used to evaluate cerebellar ataxia in adults and children. Total score calculation includes both the 9-hole pegboard test and the click test. A higher score indicates more severe cerebellar impairment.
Change in disease progression in SCA1 and SCA3 as determined by change in timed 25 foot walk test (T25FW) over time.
Time frame: Every 12 months for approximately 60 months
Timed 25 foot walk test (T25FW) is a quantitative mobility and leg function performance test based on a timed 25-walk. The T25FW has high inter-rater and test-retest reliability and shows evidence of good concurrent validity. Gait speed in general has been demonstrated to be a useful and reliable functional measure of walking ability.
Change in disease progression in SCA1 and SCA3 as determined by change in Cerebellar Cognitive Affective Syndrome (CCAS) score over time.
Time frame: Every 12 months for approximately 60 months
Cerebellar Cognitive Affective Syndrome Scale (CCAS Scale) is a battery of cognitive tasks used for determining the role of the cerebellum in the regulation of cognitive functions and present the procedure of neuropsychological diagnosis useful in indicating the specific cognitive and emotional problems in patients with cerebellar damage.
Change in disease progression in SCA1 and SCA3 as determined by change in Inventory of Non-ataxia Symptoms (INAS) total count over time.
Time frame: Every 12 months for approximately 60 months
Inventory of Non-ataxia Symptoms (INAS) is a scale utilized in recording the occurrence of accompanying non-ataxia symptoms. In the SARA validation trials, INAS was applied to a large number of SCA patients. Statistical evaluation showed good reliability.
Change in disease progression in SCA1 and SCA3 as determined by change in Functional staging score over time.
Time frame: Every 12 months for approximately 60 months
Functional staging is an instrument used to assess ambulatory capabilities of patients with cerebellar symptoms.
Change in level of disease activity based on change in cerebellar and brainstem volumes since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity based on change in cerebellar and brainstem volumes since baseline imaging.
Change in level of disease activity based on grey matter (GM) and white matter (WM) loss metrics from voxel-based morphometric (VBM) since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity as defined by change in grey matter volume and white matter volume from voxel-based morphometric data since baseline imaging.
Change in level of disease activity based on change in metabolite concentrations since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in metabolite concentrations since baseline imaging.
Change in level of disease activity based on change in fractional isotropy since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in mean diffusivity since baseline imaging.
Change in level of disease activity based on change in mean diffusivity since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in mean diffusivity since baseline imaging.
Change in level of disease activity based on change in radial and axial diffusivity since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in radial and axial diffusivity since baseline imaging.
Change in level of disease activity based on change in degree of co-activation within resting state networks since baseline imaging. (Aim 2)
Time frame: Every 12 months for approximately 36 months
Change in level of disease activity on MR morphological, biochemical (MRS) and functional (resting-state fMRI) as defined by change in degree of co-activation within resting state network since baseline imaging.
6 secondary outcomes
Change in disease progression in SCA1 and SCA3 as determined by change in Friedreich's Ataxia Activities of Daily Living (FAA-ADL) over time.
Time frame: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Fatigue Severity Scale (FSS) over time.
Time frame: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Euro Qol-5D (EQ-5D) over time.
Time frame: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Patient Health Questionnaire (PHQ-9) over time.
Time frame: Every 12 months for approximately 60 months
Change in disease progression in SCA1 and SCA3 as determined by change in Patient Global Impression (PGI) over time.
Time frame: Every 12 months for approximately 60 months
Change in survival at 60 months between and within cohorts
Time frame: Baseline to 60 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jan 2022.
- Background: PubMed 28855740Paulson HL, Shakkottai VG, Clark HB, Orr HT. Polyglutamine spinocerebellar ataxias - from genes to potential treatments. Nat Rev Neurosci. 2017 Oct;18(10):613-626. doi: 10.1038/nrn.2017.92. Epub 2017 Aug 17.
- Background: PubMed 24225362Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.
- Background: PubMed 20310029Oz G, Hutter D, Tkac I, Clark HB, Gross MD, Jiang H, Eberly LE, Bushara KO, Gomez CM. Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status. Mov Disord. 2010 Jul 15;25(9):1253-61. doi: 10.1002/mds.23067.
- Background: PubMed 24780882Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Gare I, Jacobi H, Forlani S, Schmitz-Hubsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29.
- Derived from this study: PubMed 42301528Petit E, Sayah S, Indelicato E, Borel S, Grobe-Einsler M, Faber J, Bischoff AT, Klopstock T, Schulz JB, Reetz K, Schols L, Humphries B, Atencio M, Hilab R, Iskandar A, Buchholz M, Xie F, Klockgether T, Michalowsky B, Boesch S, Durr A, Coarelli G. Cerebellar cognitive-affective syndrome in Friedreich Ataxia. J Neurol. 2026 Jun 16;273(7):400. doi: 10.1007/s00415-026-13786-1.
- Derived from this study: PubMed 40665587Arpin DJ, Subramony SH; READISCA Consortium; Vaillancourt DE, Ashizawa T, Durr A, Mareci T, Klockgether T, Faber J, Paulson HL, Oz G, Burns MR. Fixel-Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia. Ann Clin Transl Neurol. 2025 Sep;12(9):1846-1857. doi: 10.1002/acn3.70116. Epub 2025 Jul 15.
- Derived from this study: PubMed 36797067Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Oz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tetsuo Ashizawa, MD study chair
The Methodist Hospital Research Institute
Hank Paulson, MD, PhD study director
University of Michigan
Gulin Oz, MD study director
University of Minnesota
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinocerebellar Ataxia Type 1 and Spinocerebellar Ataxia 3, run by The Methodist Hospital Research Institute at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Jan 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in disease progression in SCA1 and SCA3 as determined by change in scale for the assessment and rating of ataxia (SARA) score over time. (time frame: Every 12 months for approximately 60 months). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03487367, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jan 2022.