Skip to main content
OpenTrials
Completed

NCT Number: NCT01934998

Parkinsonism 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.

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Spinocerebellar Ataxia Type 6 Ataxia Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyskinesias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Movement Disorders Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Parkinsonian Disorders Spinal Cord Diseases Spinocerebellar Ataxias Spinocerebellar Degenerations

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Chicago

Chicago, Illinois, 60637, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • Subjects who don't meet the inclusion criteria.

Treatment and study plan

Primary outcomes

  1. 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

Secondary outcomes

  1. The secondary outcome would be the INAS score

    Time frame: 10 months

    INAS score and its association with the DAT density and UPDRS scores

  2. The secondary outcome would also be the SARA score

    Time frame: 10 months

    The SARA score and its association with the DAT density and UPDRS scores

Sponsors and collaborators

Lead sponsor

University of Chicago

Other

Registry information

Official study title

Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6

Important dates

Study start
2013
Primary completion
2015
Study completion
2015
First posted
Sep 4, 2013
Registry last updated
Apr 28, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.