Scientists track rare brain diseases to unlock clues for future treatments

NCT ID NCT00029965

First seen Jun 25, 2026 · Last updated Aug 07, 2026 · Updated 9 times

Summary

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases progress and find markers that could help design future treatments.

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 lead to better ways to track disease progression and identify biomarkers for future clinical trials.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and findings may not apply to all patients due to the rarity and genetic diversity of these disorders.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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