New DNA reader aims to solve mystery of undiagnosed ataxia cases

NCT ID NCT06467175

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

Cerebellar ataxias are rare brain disorders that affect coordination. Standard genetic tests leave about 40% of patients without a clear cause. This study will use a newer, long-read DNA sequencing technique on blood samples from 210 patients and their relatives to see if it can find hidden genetic changes that standard tests miss. The goal is to improve diagnosis rates for these patients.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
blood sampling for DNA extraction and long-read genome sequencing
What this could lead to
If successful, this could provide a genetic diagnosis for many patients with cerebellar ataxia who currently have no explanation, potentially guiding future care and family planning.
What could go wrong
This is an early-stage feasibility study, not a treatment trial. The new sequencing method may not find more causes than existing tests, and its higher cost could limit routine use.

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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

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Chu Dijon Bourgogne

    RECRUITING

    Dijon, 21000, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••