Recruiting

Genetic Mechanism

Sponsor:

The Methodist Hospital Research Institute

Code:

NCT04495426

Conditions

Spinocerebellar Ataxia Type 10

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Interventions

Non-interventional study

Study Details

Brief summary:

Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia. We found a specific rare DNA variation associated with SCA10. We test whether this variation played a key role in the birth and subsequent spreading of SCA10 mutation.

Conditions

Spinocerebellar Ataxia Type 10

Study ID

NCT04495426

Start date

Sep 15, 2020

Status verified date

Aug, 2021

Completion date

Dec 31, 2023

Anticipated

Primary completion date

Dec 31, 2023

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Inclusion Criteria:

1. Signed informed consent (no study-related procedures may be performed before the subject has signed the consent form).
2. Participants of either sex aged ≥18 with presence of symptomatic ataxic disease with definite molecular diagnosis of SCA10 or whose first-degree relative has a molecular diagnosis of SCA10.
3. Asymptomatic participants of either sex aged ≥18 with definite molecular diagnosis of SCA10 (Premanifest carriers) or those whose first-degree relative has a molecular diagnosis of SCA10 (50%-at-risk relatives\*).
4. Participants capable of understanding and complying with protocol requirements.

Exclusion Criteria:

1. Known genotype consistent with other inherited ataxias.
2. Concomitant disorder(s) or condition(s) that affects assessment of ataxia or severity of ataxia during this study.
3. Unwillingness to provide a DNA sample at study entry.
4. Inability to undergo MRI scanning, Weight over 300lbs, Presence of structural abnormalities such as subdural hematoma or primary or metastatic neoplasms, concurrent illnesses or treatment interfering with cognitive function such as stroke or normal pressure hydrocephalus.

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

Presence of symptomatic ataxic disease

Presence of symptomatic ataxic disease with definite molecular diagnosis of SCA10 or whose first-degree relative has a molecular diagnosis of SCA10.

Premanifest for SCA10

Asymptomatic participants of either sex aged ≥18 with definite molecular diagnosis of SCA10 (Premanifest carriers)

At risk for SCA10

Asymptomatic participants of either sex, aged ≥18 whose first-degree relative has a molecular diagnosis of SCA10 (50%-at-risk relatives\*).

Non-carrier for SCA10 (Control)

At risk participants who test negative for the SCA10 mutation will serve as non-carriers. Exclusion criteria described above also applies to non-carrier subjects. If the number of non-carriers were less than 10, we will recruit additional participants from normal population to supplement the controls.

Interventions

Non-interventional study

There are no treatments to stop or even slow down the progression of this disease although there are treatments that temporarily improve the symptoms, such as anti-seizure medications.

Primary outcome measure

  • Examine the disease progression in SCA10 as determined by change in the scale for the assessment and rating of ataxia score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Spinocerebellar Ataxia Functional Index score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Composite Cerebellar Functional Severity Score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Neurological Examination Score for Spinocerebellar Ataxia compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Inventory of Non-ataxia Symptoms score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Beck Depression Inventory score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Examine the disease progression in SCA10 as determined by change in Europe Quality of Life-5 Dimension score compared to healthy controls [ Time Frame: Baseline visit 1, Follow up visit (12-18 months after visit 1) ]
  • Number of participants with Electroencephalography changes that may be distinctive for SCA10 [ Time Frame: Baseline visit 2 (within 6 weeks of visit 1) ]
  • Examine the level of disease activity based on change in cerebellar and brainstem volumes compared to healthy controls [ Time Frame: Baseline visit 2 (within 6 weeks of visit 1) ]
  • Examine the level of disease activity based on change in grey matter and white matter loss metrics from voxel-based morphometry compared to healthy controls [ Time Frame: Baseline visit 2 (within 6 weeks of visit 1) ]
  • Examine the level of disease activity based on change in mean diffusivity compared to healthy controls [ Time Frame: Baseline visit 2 (within 6 weeks of visit 1) ]
  • Examine the level of disease activity based on change in radial and axial diffusivity compared to healthy controls [ Time Frame: Baseline visit 2 (within 6 weeks of visit 1) ]

Central Contacts and Locations

Central contacts

Tetsuo Ashizawa, MD

713-441-8224tashizawa@houstonmethodist.org

Titilayo Olubajo, CCRP

713-363-9803tolubajo@houstonmethodist.org

Locations

Houston Methodist Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Tetsuo Ashizawa, MD

713-441-8224tashizawa@houstonmethodist.org

Titilayo Olubajo, CCRP

713-363-9803tolubajo@houstonmethodist.org

More Information

Sponsor

The Methodist Hospital Research Institute

Last update posted

Sep 1, 2021

Last verified

Aug, 2021

Keywords

  • SCA10
  • genotype
  • spinocerebellar
  • ataxia
  • type 10
  • cerebellum
  • G allele
  • haplotype

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by The Methodist Hospital Research Institute on 2021-09-01.