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Study identifier: NCT01060371 Synced from ClinicalTrials.gov · August 07, 2026
● Study status: Recruiting

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Condition: Spinocerebellar Ataxia Type 1 · Spinocerebellar Ataxia Type 2 · Spinocerebellar Ataxia Type 3  ·  Sponsor: Lauren Moore

PhaseN/A
Planned participants1400
Who can joinAll sexes, 6 Years to no upper limit
Healthy volunteersYes

Sponsor, CRO or site team? See where this study is running → — listed sites, countries and recruiting context. Everything below is written for patients and caregivers.

About this study

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 s…

This description comes directly from the study's public registry record.

Talk to the study team

Laura P Crespo  ·  763-553-0085  ·  laura@ataxia.org

Always discuss trial participation with your own doctor first.

Locations (17)

University of California Los AngelesLos Angeles, California, United StatesRecruiting
University of California San FranciscoSan Francisco, California, United StatesRecruiting
University of FloridaGainesville, Florida, United StatesRecruiting
University of South FloridaTampa, Florida, United StatesRecruiting
Emory UniversityAtlanta, Georgia, United StatesRecruiting
Nortwestern UniversityChicago, Illinois, United StatesRecruiting
University of ChicagoChicago, Illinois, United StatesWithdrawn
John Hopkins UniversityBaltimore, Maryland, United StatesRecruiting
Harvard UniversityBoston, Massachusetts, United StatesRecruiting
University of MichiganAnn Arbor, Michigan, United StatesRecruiting
University of MinnesotaMinneapolis, Minnesota, United StatesActive Not Recruiting
Columbia UniversityNew York, New York, United StatesRecruiting

+ 5 more locations — full list on the registry record.

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