Overview

JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease

Status:
Recruiting
Trial end date:
2025-03-15
Target enrollment:
0
Participant gender:
All
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....
Phase:
Phase 1/Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
National Heart, Lung, and Blood Institute (NHLBI)
Criteria
- INCLUSION CRITERIA:

The study design was constructed to treat one subject, a 58 year old male with CNS
Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.

EXCLUSION CRITERIA:

- Active life-threatening infections

- Hemoglobin <7 g/dL

- Platelet counts < 50 K /mcL

- Neutropenia (ANC <0.5 x k/mcL)

- Lymphopenia (ALC <0.2 x k/mcL)

- LFTs (liver function test) > 3 x time upper limit

- eGFR/CreatCr < 30 mL/min