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Scientists build giant DNA library to crack ataxia mysteries

NCT ID NCT04529252

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2017

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

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

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show 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

  • Mayo Clinic in Florida

    Jacksonville, Florida, 32224, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.