An observational study in Spinocerebellar Ataxia Type 1 and Spinocerebellar Ataxia 3, sponsored by The Methodist Hospital Research Institute. Status unknown at 1 site in United States. Open to participants aged 18 Years to 65 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2022-01-19.
Sponsored by The Methodist Hospital Research Institute · Observational
Among 14 studies in Machado-Joseph Disease with a site in United States — 2 open to participants now, 5 under way, 2 of them phase 3. Machado-Joseph Disease · United States.
Among the 14 studies in Machado-Joseph Disease with a site in United States, this one is the only one that started in 2018, is one of 6 observational ones, and was the 7th registered.
33 studies on the registry are indexed under Machado-Joseph Disease; 5 are open to participants now.
Browse Machado-Joseph Disease studies →2 of the 14 studies in Machado-Joseph Disease with a site in United States are open now. Recruiting first, the newest first:
Sanford Health · Sites in United States
Lauren Moore · Sites in United States, Canada
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 3 Machado-Joseph Disease studies recruiting now, 2 (67%) set no upper age limit and 1 (33%) stop at 75 or younger; 2 take children under 18; 1 take healthy volunteers.
This study: 18 Years to 65 Years · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
14 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 1 · Phase 2 3 · Phase 3 3
First in 2008; this study’s year is marked. 1 started in 2018.
This study's planned enrollment of 200 is above the median of 136 across 10 observational studies indexed under Machado-Joseph Disease.
Median enrollment 20 across the 8 interventional studies, 164 across the 6 observational. Of the 7 that completed or were terminated, 1 (14%) have results posted.
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4 of 14 have an industry lead sponsor. The 10 most frequent:
The Methodist Hospital Research Institute is the lead sponsor of 160 studies on the registry; 59 are open to participants now.
Of its 28 completed or terminated interventional studies of FDA-regulated products, 18 (64%) have results posted.
The Methodist Hospital Research Institute has 1 study filed under Machado-Joseph Disease — fewer than ten, so there is no comparison to draw.
None of the studies under way reaches primary completion within a year.
Among the 14 studies in Machado-Joseph Disease with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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.
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.
33 studies on the registry are indexed under Machado-Joseph Disease; 5 are open to participants now.
This study's planned enrollment of 200 is above the median of 136 across 10 observational studies indexed under Machado-Joseph Disease.
Browse Machado-Joseph Disease studies →The Methodist Hospital Research Institute is the lead sponsor of 160 studies on the registry; 59 are open to participants now.
Of its 28 completed or terminated interventional studies of FDA-regulated products, 18 (64%) have results posted.
Compared within Machado-Joseph Disease, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Spinocerebellar Ataxias. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Cancer that has spread from where it began to other parts of the body. “Metastatic” cancer is cancer that has spread this way.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Metastases
Cancer that has spread from where it began to other parts of the body. “Metastatic” cancer is cancer that has spread this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This cohort is defined by individuals with a total SARA score of less than or equal to 9.5
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
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
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
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).
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: Every 12 months for approximately 36 months
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.
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.
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.
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.
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.
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.
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.
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.
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.
Time frame: 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
Time frame: Baseline to 60 months
Plan to share: Undecided
Started Aug 2018 (actual). Primary completion is estimated for Dec 2023, 64 months after the start.
How these figures are worked out, and which studies are left out of them.
This study is status unknown, as verified in Jan 2022. You cannot join it, but the record below documents what was studied.
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The Methodist Hospital Research Institute →