Spinocerebellar Ataxia Type 27BNCT06472557
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
An observational study of Spinocerebellar Ataxia Type 27B, run by University Hospital Tuebingen at 5 sites in 4 countries.
Trial summary
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers. Read more about this study
- Who is it for?
- Ages 18 to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Spinocerebellar Ataxia Type 27B
- How many people
- 300 participants
- Where
- 5 sitesin 4 countries
- Study dates
- 4 Jun 2024to 31 Dec 2028
- How long will I take part?
- 24 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 99 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: This study enrolls participants with clinically manifest and genetically confirmed SCA27B and first-disease relatives at-risk for SCA27B, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.
Who may be able to join
- SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14
- SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status
- Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
- Written informed consent AND
- Participants are willing and able to comply with study procedures
Who cannot join
- SCA27B: Missing informed consent
- SCA27B risk subjects: Missing informed consent
- Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments
Trial locations and contacts
5 sites in 4 countries. Contact the study team or a site near you to ask about taking part.
5 sites in 4 countries
Germany2 sites, 2 recruiting
- Recruiting
Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
Essen, North Rhine-Westphalia, 45147
Friedrich Erdlenbruch, Dr., +49 201 723 ext. 2180, friedrich.erdlenbruch@uk-essen.de
Dagmar Timmann, Prof. Dr.
- Recruiting
Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
Tübingen, Baden-Wurttemberg, 72076
Lisa Graf, MSc, +49 7071 29 ext. 85374, lisa.graf@med.uni-tuebingen.de
Matthis Synofzik, Prof. Dr.
Czechia1 site, 1 recruiting
- Recruiting
Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
Prague, 15006
Olga Brýksiová, +420 702 269 277, ataxie@fnmotol.cz
Martin Vyhnálek, Assoc. Prof., MD., Ph.D.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Fondazione Stella Maris
Pisa, 56128
Filippo M. Santorelli, MD, +39 050 886275, filippo.santorelli@fsm.unipi.it
Sara Satolli, MD, sara.satolli@gmail.com
Spain1 site, 1 recruiting
- Recruiting
Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
San Sebastián, Gipuzkoa, 20014
Ioana Croitoru, SC, +34 94300 ext. 7027, ioana.croitoru@bio-gipuzkoa.eus
Javier Ruiz Martinez, Prof. Dr.
About this study
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers.
Read the detailed description
The investigators will perform an international, multi-center, multi-modal, and registry-based standardized prospective Natural History Study (NHS) in Spinocerebellar Ataxia Type 27B (SCA27B), including the presymptomatic phase of the disease (i.e. presymptomatic subjects at risk for SCA27B). Participants will be assessed annually. Clinical data, including clinician-reported outcomes and patient-focused outcomes, will be entered into a clinical database customized to the requirements of this specific study (SCA27B Registry; www.ataxia-registries.org). Digital-motor outcomes comprise digital gait assessment by wearable sensors, and digital assessment of upper limb movements by Q-Motor. At all study visits, participants will be asked to donate biosamples; and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy. Based on this multimodal protocol, the study aims to determine the most sensitive, comprehensive, and reliable outcome measures for future therapeutic trials in SCA27B.
- Conditions
- Spinocerebellar Ataxia Type 27B
- Keywords
- ataxia, SCA27B, FGF14, Natural History Study, Outcome Validation
- Medical subject headings
- 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 |
|---|---|---|
| SCA27B | Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants. | |
| SCA27B risk subjects | First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants | |
| Unrelated healthy controls | Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
Severity of ataxia in the gait and balance domain will be assessed by application of part E of the neurological examination of Friedreich Ataxia Rating Scale (FARS-E). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher FARS-E scores indicate more severe functional impairment.
Measured: 24 months
Secondary outcomes (4)
Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up
Severity of ataxia will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of 8 items, yielding a total score between 0 and 40. Hereby, higher SARA scores indicate more severe disease.
Measured: 24 months
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up
Impairment in activities of daily living will be assessed by application of the Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL). The total score is calculated as the sum of 9 items, yielding a total score between 0 and 36. Hereby, higher FARS-ADL scores indicate more severe functional impairment.
Measured: 24 months
Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up
Patient-experienced longitudinal change of ataxia severity will be assessed by asking for the Patient Global Impression of Change (PGI-C) as patient-reported outcome and anchor for longitudinal validation of other outcomes. The PGI-C consists of 7 levels from 1 = very much worse, to 4 = no change, to 7 = very much improved.
Measured: 24 months
Digital gait and balance assessment from baseline to 2-year follow-up
Gait and balance will be assessed digitally with body-worn sensors (inertial measurement units), which record acceleration or rotational movements during specific gait and balance tasks.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jun 2024
- Study start4 Jun 2024
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinocerebellar Ataxia Type 27BStudies 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
- 300 participants (estimated)
- Target duration
- 24 Months
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof. Dr. Matthis Synofzik, University Hospital Tuebingen
- Investigators
- Matthis Synofzik, Prof. Dr., Principal investigator, University Hospital TuebingenAndreas Traschütz, Dr. Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06472557
- Sponsor's protocol ID
- SCA27B-NHS
- Status last verified
- Mar 2026
- First submitted
- 18 Jun 2024
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: Individual participant data will be shared upon reasonable request.
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
- ClinicalTrials.gov ID
- NCT06472557
- Acronym / sponsor ID
- SCA27B-NHS
- Conditions
- Spinocerebellar Ataxia Type 27B
- Keywords
- ataxia, SCA27B, FGF14, Natural History Study, Outcome Validation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 4 Jun 2024 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 25 Jun 2024 (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.
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers.
Detailed description
The investigators will perform an international, multi-center, multi-modal, and registry-based standardized prospective Natural History Study (NHS) in Spinocerebellar Ataxia Type 27B (SCA27B), including the presymptomatic phase of the disease (i.e. presymptomatic subjects at risk for SCA27B). Participants will be assessed annually. Clinical data, including clinician-reported outcomes and patient-focused outcomes, will be entered into a clinical database customized to the requirements of this specific study (SCA27B Registry; www.ataxia-registries.org). Digital-motor outcomes comprise digital gait assessment by wearable sensors, and digital assessment of upper limb movements by Q-Motor. At all study visits, participants will be asked to donate biosamples; and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy. Based on this multimodal protocol, the study aims to determine the most sensitive, comprehensive, and reliable outcome measures for future therapeutic trials in SCA27B.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 24 Months
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| SCA27B | – | –Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants. |
| SCA27B risk subjects | – | –First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants |
| Unrelated healthy controls | – | –Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50. |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- This study enrolls participants with clinically manifest and genetically confirmed SCA27B and first-disease relatives at-risk for SCA27B, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.
Key inclusion criteria (5 listed)
- SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14
- SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status
- Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
- Written informed consent AND
- Participants are willing and able to comply with study procedures
Key exclusion criteria (3 listed)
- SCA27B: Missing informed consent
- SCA27B risk subjects: Missing informed consent
- Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments
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
Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
Time frame: 24 months
Severity of ataxia in the gait and balance domain will be assessed by application of part E of the neurological examination of Friedreich Ataxia Rating Scale (FARS-E). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher FARS-E scores indicate more severe functional impairment.
4 secondary outcomes
Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up
Time frame: 24 months
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up
Time frame: 24 months
Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up
Time frame: 24 months
Digital gait and balance assessment from baseline to 2-year follow-up
Time frame: 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2026.
- Individual participant dataSharing planned: Undecided. Individual participant data will be shared upon reasonable request.
Related trials for Spinocerebellar Ataxia Type 27B
RecruitingObservational study
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
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.
Matthis Synofzik, Prof. Dr. principal investigator
University Hospital Tuebingen
Andreas Traschütz, Dr. Dr. principal investigator
University Hospital Tuebingen
5 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinocerebellar Ataxia Type 27B, run by University Hospital Tuebingen at 5 sites in 4 countries.
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 5 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 6 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Germany, Czechia, Italy, Spain. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Matthis Synofzik, Prof. Dr. (+49 7071 29 ext. 82060, matthis.synofzik@uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 6 Apr 2026.