JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
Status:
Recruiting
Trial end date:
2025-03-15
Target enrollment:
Participant gender:
Summary
Background:
Kohlmeier-Degos (K-D) is a rare disease that leads to the blockage of small blood vessels in
many organs; these can include the skin, eyes, stomach, lungs, heart, and the brain and
spinal cord (central nervous system, or CNS). There are no known effective treatments for K-D
that affects the CNS.
Objective:
To test a drug (ruxolitinib) in a person with K-D affecting the CNS.
Eligibility:
This study is designed to treat 1 subject, a 58-year-old male with K-D affecting the CNS.
Design:
The participant will be screened:
He will have a physical exam and blood tests.
He will have skin biopsies: Small samples of skin will be removed.
He will have a lumbar puncture: A needle will be inserted in his back to draw fluid from the
space around the spinal cord.
He will have a magnetic resonance imaging (MRI) scan: He will lie on a table that slides into
a tube to take pictures of his brain and spinal cord.
He will see a doctor who specializes in nerves.
Ruxolitinib is a tablet taken by mouth. The participant will take the drug twice a day for up
to 26 weeks. The dosage may change over time.
The participant will have up to 7 clinic visits in 28 weeks. Each visit will be 1 to 3 days.
MRI scans, biopsies, lumbar punctures, and other tests will be repeated on different visits.
The participant may receive follow-up phone calls between visits. He will report any adverse
effects. Unscheduled visits may be needed if new symptoms develop.
The last follow-up will be 4 weeks after the last dose of the study drug....