JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease

Conditions

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

Eligibility Criteria

Sex

ALL

Age

18 Years - 100 Years

Healthy Volunteers

Not accepted

Interventions

• Ruxolitinib — DRUG
  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.

Study Details

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.

Key Dates

Start date

Sep 28, 2023

Status verified

Jan 2026

Primary completion

Feb 28, 2025

Completion

Feb 28, 2025

Study Design

Enrollment

1 participants (actual)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Arms

• Experimental: Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease
  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.

Primary Outcome Measure

Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib [ Time Frame: Baseline, up to 13 weeks ]

Locations (1)

Find similar trials in Bethesda, MD

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