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Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

NCT01060371 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 800

Last updated 2023-06-01

No results posted yet for this study

Summary

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease.

The research questions are:

1. How does your disease progress over time?
2. What are the best ways to measure the progression?
3. Do some genes, other than the gene that is abnormal in your disease, have any effect on the way the disease behaves?

This is a nationwide study and we expect that 800 patients will participate all over the USA. The participants will be in the study for an indeterminate period of time. Study visits will be done every 6 or 12 months depending on the participating site.

Conditions

  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia Type 6

Interventions

GENETIC

All Participants

If you decide to participate in this study, we will collect 1 tablespoon (15 milliliters) of blood during the first/screening visit in order to extract your DNA.

Sponsors & Collaborators

Principal Investigators

  • S. Subramony, MD · University of Florida

Eligibility

Min Age
6 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-04-30
Primary Completion
2024-05-19
Completion
2024-05-19

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01060371 on ClinicalTrials.gov