Spinocerebellar Ataxia Type 6NCT01934998
Parkinsonism in Spinocerebellar Ataxia Type 6
An observational study of Spinocerebellar Ataxia Type 6, run by University of Chicago at 1 site in United States.
Trial summary
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinocerebellar Ataxia Type 6
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2013to Apr 2015
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: SCA6 patients and healthy controls.
Who may be able to join
- Patients 18 years old or older with progressive ataxia and positive genetic test for SCA6 will be recruited. Those who take medications known to affect DAT binding, such as Ritalin, Cocaine, and Adderall will be excluded. Those taking SSRIs for depression will be asked to stop the medications for at least 24 hours before the DaTscanTM. All study patients will have the decision making capability to understand the study and requirements and consent for themselves.
- The age-matched controls will most likely be the patients' spouses. However friends or family members may also serve as controls if needed. Control subjects will have no ataxia, parkinsonism, myoclonus and other focal neurological symptoms and deficits.
Who cannot join
- Subjects who don't meet the inclusion criteria.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Each of these disorders is caused by a translated CAG repeat expansion mutation. SCA1, SCA2, and SCA3 usually have an onset between 30 and 40, and SCA6 usually begins at the age of 50 to 60. In addition to progressive ataxia, SCA1, SCA2, and SCA3 frequently present with additional non-ataxic symptoms, including parkinsonism. Carbidopa/levodopa was found to have a good therapeutic effect on parkinsonism.
The SCA6 used to be considered a pure cerebellar disorder. However, a recent large study on natural history of SCAs found that patients with SCA6 often had nonataxia symptoms, an observation that challenges the view that SCA6 is a purely cerebellar disorder. Parkinsonism in SCA6 was rarely reported, except in a case serial, or a small size study in Korean patients.
Read more
Dopamine transporter (DAT) is a very reliable dopaminergic neuronal marker. Reduction in DAT density detected by I123 SPECT DaTscanTM in the dopaminergic neuron terminal striatum was reported in one small size study consisting of eight SCA6 patients in Korea. There was also a PET study using different radioligand for DAT in a small group of SCA6 patients in Germany, which found sub-clinical change in DAT density in some patients with SCA6.
There has been no study so far in the US on parkinsonism and other non-ataxia spectrum and striatal dopaminergic damage in SCA6, probably because non-ataxia feature of SCA6 hasn't received much attention, and also because DaTscanTM hasn't been clinically available in US until recently. The only two published studies on SCA6 and DAT were from Korea and Germany, which were of small subject size. There has been no treatment available for SCA6 so far.
Our hypothesis is that parkinsonism and other non-ataxia spectrum and striatal dopaminergic neurodegeneration are part of the SCA6 disease spectrum.
Read the detailed description
Specifically, we would expect to see
- Parkinsonism and other non-ataxia symptoms are more commonly present in SCA6 patients than we used to think.
- Parkinsonism is associated with the loss of DAT in striatum.
- Parkinsonism and other non-ataxia symptoms are also associated with the expanded allele repeat number, the disease duration, and the severity of ataxia, in addition to DAT loss.
- Conditions
- Spinocerebellar Ataxia Type 6
- Keywords
- SCA6, parkinsonism, Datscan
- Medical subject headings
- Spinocerebellar Ataxias, Parkinsonian Disorders
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 |
|---|---|---|
| SCA6 and control | SCA6 and control | |
| SCA6 or controls | Twelve SCA6 patients and 8 controls to be studied |
What is being measured
The primary outcome is the main question the study is designed to answer.
The primary outcome would be the clinical feature of the parkinsonism and change in DAT density in putamen and caudate
The UPDRS-II and -III scores
Measured: 10 months
Secondary outcomes (2)
The secondary outcome would be the INAS score
INAS score and its association with the DAT density and UPDRS scores
Measured: 10 months
The secondary outcome would also be the SARA score
The SARA score and its association with the DAT density and UPDRS scores
Measured: 10 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Sep 2013 (estimated)
- Study startJul 2013
- Primary completionApr 2015
- Study completionApr 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinocerebellar Ataxia Type 6Studies of the same condition, open and under way.
- More trials run by University of ChicagoThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Chicago
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tao Xie, MD PhD, Principal investigator, University of Chicago
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01934998
- Sponsor's protocol ID
- 12-1335
- Status last verified
- Apr 2015
- First submitted
- 27 Aug 2013
- Last updated
- 28 Apr 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Apr 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6
- ClinicalTrials.gov ID
- NCT01934998
- Acronym / sponsor ID
- 12-1335
- Conditions
- Spinocerebellar Ataxia Type 6
- Keywords
- SCA6, parkinsonism, Datscan
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University of ChicagoUniversity, hospital or other
- Study start
- Jul 2013
- Primary completion
- Apr 2015 (actual)
- Study completion
- Apr 2015 (actual)
- First posted
- 4 Sep 2013 (estimated)
- 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 spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Each of these disorders is caused by a translated CAG repeat expansion mutation. SCA1, SCA2, and SCA3 usually have an onset between 30 and 40, and SCA6 usually begins at the age of 50 to 60. In addition to progressive ataxia, SCA1, SCA2, and SCA3 frequently present with additional non-ataxic symptoms, including parkinsonism. Carbidopa/levodopa was found to have a good therapeutic effect on parkinsonism.
The SCA6 used to be considered a pure cerebellar disorder. However, a recent large study on natural history of SCAs found that patients with SCA6 often had nonataxia symptoms, an observation that challenges the view that SCA6 is a purely cerebellar disorder. Parkinsonism in SCA6 was rarely reported, except in a case serial, or a small size study in Korean patients.
Dopamine transporter (DAT) is a very reliable dopaminergic neuronal marker. Reduction in DAT density detected by I123 SPECT DaTscanTM in the dopaminergic neuron terminal striatum was reported in one small size study consisting of eight SCA6 patients in Korea. There was also a PET study using different radioligand for DAT in a small group of SCA6 patients in Germany, which found sub-clinical change in DAT density in some patients with SCA6.
There has been no study so far in the US on parkinsonism and other non-ataxia spectrum and striatal dopaminergic damage in SCA6, probably because non-ataxia feature of SCA6 hasn't received much attention, and also because DaTscanTM hasn't been clinically available in US until recently. The only two published studies on SCA6 and DAT were from Korea and Germany, which were of small subject size. There has been no treatment available for SCA6 so far.
Our hypothesis is that parkinsonism and other non-ataxia spectrum and striatal dopaminergic neurodegeneration are part of the SCA6 disease spectrum.
Detailed description
Specifically, we would expect to see
- Parkinsonism and other non-ataxia symptoms are more commonly present in SCA6 patients than we used to think.
- Parkinsonism is associated with the loss of DAT in striatum.
- Parkinsonism and other non-ataxia symptoms are also associated with the expanded allele repeat number, the disease duration, and the severity of ataxia, in addition to DAT loss.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| SCA6 and control | – | –SCA6 and control |
| SCA6 or controls | – | –Twelve SCA6 patients and 8 controls to be studied |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- SCA6 patients and healthy controls.
Key inclusion criteria (2 listed)
- Patients 18 years old or older with progressive ataxia and positive genetic test for SCA6 will be recruited. Those who take medications known to affect DAT binding, such as Ritalin, Cocaine, and Adderall will be excluded. Those taking SSRIs for depression will be asked to stop the medications for at least 24 hours before the DaTscanTM. All study patients will have the decision making capability to understand the study and requirements and consent for themselves.
- The age-matched controls will most likely be the patients' spouses. However friends or family members may also serve as controls if needed. Control subjects will have no ataxia, parkinsonism, myoclonus and other focal neurological symptoms and deficits.
Key exclusion criteria (1 listed)
- Subjects who don't meet the inclusion criteria.
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
The primary outcome would be the clinical feature of the parkinsonism and change in DAT density in putamen and caudate
Time frame: 10 months
The UPDRS-II and -III scores
2 secondary outcomes
The secondary outcome would be the INAS score
Time frame: 10 months
The secondary outcome would also be the SARA score
Time frame: 10 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Apr 2015.
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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.
Tao Xie, MD PhD principal investigator
University of Chicago
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 6, run by University of Chicago 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 2 inclusion and 1 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: finished, as of the sponsor's last update on 28 Apr 2015. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
The primary outcome would be the clinical feature of the parkinsonism and change in DAT density in putamen and caudate (time frame: 10 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 28 Apr 2015; AzTrials last refreshed its copy on 26 Oct 2026.