Single Patient Study of JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease

Detailed Summary

Background: Kohlmeier-Degos (K-D) is a rare disease that leads to the inflammation and/or blockage of small blood vessels in many organs; these can include the skin, eyes (rare), small bowels, 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 adult participant with K-D affecting the CNS. Design: The participant will be screened: They will have a physical exam and blood tests. They will have skin biopsies: Small samples of skin will be removed. They will have a lumbar puncture: A needle will be inserted in his back to draw fluid from the space around the spinal cord. They will have a magnetic resonance imaging (MRI) scan: they will lie on a table that slides into a tube to take pictures of their brain and spinal cord. They 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 blood tests will be repeated on different visits. The participant may receive follow-up phone calls between visits. The participant 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.

Study Details

Timeline

Interventions