Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases

Running, not enrolling

Conditions studied: Spinocerebellar Ataxias, Cerebellar Ataxia, Nucleotide Repeat Disease

In brief

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.

Key facts

Study ID

NCT04529252

Run by

Mayo Clinic

People needed

1000

Starts

2017-07-17

Expected to finish

2026-12-01

Last updated by the study team

2026-03-24

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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).

Where it is running

• Mayo Clinic in Florida — Jacksonville, Florida, United States

Full record on ClinicalTrials.gov

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