NCT01060371 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
| NCT ID | NCT01060371 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Lauren Moore |
| Condition | Spinocerebellar Ataxia Type 1 |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,400 participants |
| Start Date | 2010-04 |
| Primary Completion | 2030-12 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,400 participants in total. It began in 2010-04 with a primary completion date of 2030-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCAs and this study will focus on types 1, 2, 3, 6, 7, 8, 10, 27B, and RFC1-ataxia (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease, SCA 6, SCA 7, SCA 8, SCA 10, SCA27B, and RFC1-ataxia, also known as CANVAS). 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 do these diseases 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 these diseases, have any effect on the way the disease behaves? This is a nationwide study and the investigators expect that 1400 patients will participate all over North America. The participants will remain in the study for an indeterminate period of time, for as long as they are willing to participate. Study visits will be done every 12 months. Within the broader CRC-SCA, there is an Imaging Sub-study aiming to identify magnetic resonance imaging (MRI) markers sensitive to the onset and progression of common SCAs. To accomplish this, participants attend annual visits involving a neurological exam, surveys, a blood draw, and an MRI scan. Participants can attend visits at one of three US locations - Minneapolis, MN; Gainesville, FL; or Dallas, TX and two European locations - Paris, France and Bonn, Germany. Eligible participants must either have SCA1, 2, or 3 or have been a participant of the previous READISCA study (NCT03487367). Gene-positive participants must have a SARA score less than 10; however, there is no SARA limit for participants previously enrolled in READISCA. All participants must be 18 years or older. Gene-negative participants should be 25-65 years old.
Eligibility Criteria
Inclusion Criteria: * Affected individuals aged 6 or above with symptoms and/or signs of ataxia with genetic confirmation of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia either in themselves or first degree family member. * Any individual aged 18 or above with a definite molecular diagnosis of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia. * Former participants of the READISCA (NCT03487367) study. * Willingness to participate in the study and ability to give informed consent * For MRI Sub-Study only: Previous READISCA enrollees; individuals aged 18 or above with a genetic confirmation of SCA1, 2, or 3 and a SARA score \<10 at MRI pre-screening; Healthy control participants without neurological condition. Exclusion Criteria: * Exclusion of SCA 1, 2, 3, 6, 7, 8, 10, 27B, or RFC1-ataxia by previous DNA testing. * A lack of willingness to participate in the study * For MRI Sub-study only: Inability to undergo MRI scanning, pregnancy, and other neurological diseases than those of interest.
Contact & Investigator
Liana Rosenthal, MD, PhD
PRINCIPAL INVESTIGATOR
Johns Hopkins University
Frequently Asked Questions
Who can join the NCT01060371 clinical trial?
This trial is open to participants of all sexes, aged 6 Years or older, studying Spinocerebellar Ataxia Type 1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01060371 currently recruiting?
Yes, NCT01060371 is actively recruiting participants. Contact the research team at laura@ataxia.org for enrollment information.
Where is the NCT01060371 trial being conducted?
This trial is being conducted at Los Angeles, United States, San Francisco, United States, Gainesville, United States, Tampa, United States and 11 additional locations.
Who is sponsoring the NCT01060371 clinical trial?
NCT01060371 is sponsored by Lauren Moore. The principal investigator is Liana Rosenthal, MD, PhD at Johns Hopkins University. The trial plans to enroll 1,400 participants.