Phase 2
N=1
JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
Kohlmeier Degos Disease With Neurologic Involvement · Kohlmeier-Degos Disease
Bottom Line
View on ClinicalTrials.gov: NCT05998395 ↗Enrolled (actual)
1
Serious AEs
100.0%
Results posted
Feb 2026
Primary outcome: Primary: Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib — 1; 0; 0 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Ruxolitinib (Drug)
- Age
- Adult, Older Adult · 18+ yrs
- Sex
- All
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Primary completion
- Feb 2025
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib |
0; 0; 1 | — |
| PRIMARY Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib |
0; 0; 1 | — |
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.
Eligibility Criteria
- INCLUSION CRITERIA:
The study design was constructed to treat one participant with CNS Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.
EXCLUSION CRITERIA
- Active life-threatening infections
- Hemoglobin 3 x time upper limit
- eGFR/CreatCr < 30 mL/min
Data sourced from ClinicalTrials.gov (NCT05998395). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.