Scientists build giant DNA library to crack ataxia mysteries
NCT ID NCT04529252
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study from Mayo Clinic is creating a large collection of blood, urine, stool, spinal fluid, and skin samples from 1000 people with ataxia and related genetic diseases, plus their healthy family members. The goal is to better understand the genetic and physical features of these conditions. No treatments are being tested, but the repository may help future research.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help researchers better understand the genetic causes and progression of ataxia and related diseases, potentially pointing toward future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It only collects samples and data, so it won't directly help participants. Results may take years to yield meaningful insights.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 1,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jul 2017
- Expected to finish
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Dec 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Participants will be identified through investigator's clinical practice and their relatives, health fairs, as well as support groups. Controls will be recruited from clinical practice (spouses and caregivers), support groups, and interested volunteers.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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. 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).
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Mayo Clinic in Florida
Jacksonville, Florida, 32224, United States
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