Scientists hunt for clues to predict rare brain disease before symptoms strike

NCT ID NCT05124392

First seen Jun 24, 2026 · Last updated Aug 14, 2026 · Updated 3 times

Summary

This study aims to find biological markers in spinal fluid and blood that could signal the start of prion disease before symptoms appear. Researchers will follow 150 people who carry a genetic mutation for prion disease, along with family members and healthy volunteers. Participants will undergo cognitive tests, blood draws, and lumbar punctures over time. The goal is to better predict when the disease will begin and help design future treatment trials.

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 predict when prion disease will start in people who carry the genetic mutation, enabling earlier treatment in future trials.
What could go wrong
This is an observational study, not a treatment trial. It may not find reliable biomarkers, and results may not apply to all forms of prion disease.

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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

    Email: •••••@•••••

Locations

  • Alzheimer's Clinical and Translational Research Unit

    RECRUITING

    Charlestown, Massachusetts, 02129, United States

    Contact Email: •••••@•••••

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