Who is eligible for clinical trial NCT04529252?

Participants must meet protocol criteria for Spinocerebellar Ataxias. Confirm exact inclusion and exclusion requirements with the study coordinator.

Does clinical trial NCT04529252 provide travel or cost reimbursement?

Check with the site coordinator at the participating facility for travel and lodging stipend availability, and for which routine-care costs are covered.

🏛️ Verified NIH Record • Updated 2026-03-20

Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases (NCT04529252)

🔵 Active, Not Recruiting Interventional Protocol 📊 Observational Clinical Research Sponsor: Mayo Clinic

🩺 Plain-English Summary (8th-Grade Level)

The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.

Who can join: To join this study, participants generally need to meet the listed inclusion criteria (7 items) and avoid the listed exclusions (6 items).

Location: Mayo Clinic in Florida — Jacksonville, Florida

📋 "Do I Qualify?" — 1-Minute Self Screener

Instant Checklist

Check every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).

Males and females over the age of 18 years
We acknowledge that some participants may be unable to consent due to underlying medical conditions; an eligible proxy may provide the informed consent and provide a signature on the designated line.
Participants with a clinical diagnosis of spinocerebellar ataxia and other nucleotide repeat diseases (not including Huntington's Disease) with or without a genetic mutation and unaffected family members (grandparents, parents, brothers, sisters, cousins, uncles and aunts) who may or may not carry a genetic mutation for the disease.
Patients with genetic neurodegenerative form of spinocerebellar ataxia and other nucleotide repeat diseases excluding Huntington's Disease who do not have a known family history of genetic neurodegenerative spinocerebellar ataxia.
Women of childbearing age will be included as they will not be exposed to any harmful substances nor any forms of treatment while in this study.
Males and females over 18 years of age with no known medical or family history of inherited neurodegenerative forms of spinocerebellar ataxia or nucleotide repeat diseases (not including Huntington's Disease) will be enrolled as controls.
Spouses and caregivers of patients with spinocerebellar ataxia and nucleotide repeat diseases (not including Huntington's Disease) may serve as controls in the study. Controls will also be participants interested in the study after having viewed the advertisement displayed here at Mayo Clinic Florida or heard about the study by word of mouth.

Usually NOT eligible if any of the following apply:

Exclusion Criteria:
Patients that do not want to participate by either checking no on the contact letter or refusing over the phone. This will be recorded in the Progeny system and patients will not be contacted again.
Allergy to study-related materials including lidocaine or iodine. We will make all efforts to utilize alternative means when obtaining specimens (i.e. using rubbing alcohol and obtaining blood samples instead of skin biopsies).
Potential subjects will not be excluded based on being minorities.
Pregnant subjects will not be included in the study.
We propose to include 1000 subjects in our repository (500 affected plus unaffected and 500 controls patients).

🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.

📍 All Participating Trial Locations (1 Sites)

Mayo Clinic in Florida — Jacksonville, Florida

💰 Cost, Insurance & Patient Rights

100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
Voluntary Participation: You may withdraw at any time without affecting your standard medical care.

🏛️ View Official NIH Record ↗