One-Patient trial hopes to halt rare brain disease

NCT ID NCT05998395

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

Summary

This study tested a drug called ruxolitinib in one adult with Kohlmeier-Degos disease affecting the brain and spinal cord. The goal was to see if the drug could stop or slow the growth of lesions in the central nervous system. The participant took the drug by mouth twice daily for up to 26 weeks and had regular MRI scans and other tests to monitor effects.

What this could mean

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

Active substance
Ruxolitinib (also known as Jakafi), a tablet taken by mouth
What this could lead to
If it works, this could point toward a treatment for the central nervous system effects of Kohlmeier-Degos disease, which currently has no known effective therapy.
What could go wrong
This is a single-patient study, so results may not apply to others. The drug may not stabilize or improve brain lesions, and side effects like infections or blood count changes are possible.

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

    Bethesda, Maryland, 20892, United States

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