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JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease

NCT05998395 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 1

Last updated 2026-02-03

Study results available
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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.

Conditions

  • Kohlmeier Degos Disease With Neurologic Involvement
  • Kohlmeier-Degos Disease

Interventions

DRUG

Ruxolitinib

Ruxolitinib at 5 mg twice a day (BID) for 1 week and then at 10 mg BID for 13-73 weeks and 1 week of 5 mg BID before stopping ruxolitinib.

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    lead NIH

Principal Investigators

  • Cornelia D Cudrici, M.D. · National Heart, Lung, and Blood Institute (NHLBI)

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-09-28
Primary Completion
2025-02-28
Completion
2025-02-28
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Drugs

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05998395 on ClinicalTrials.gov