JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease

NCT05998395 | Completed Phase 1 Results DMC FDA Drug

• 2 other identifiers: 10001517001517-H
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Rare Small Vessel Vasculopathy Of Unknown Etiology; Kohlmeier Degos Disease With Neurologic Involvement; Interferon Related Disease

Outcome Measures

Primary Outcomes (2)

• Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib

  The primary endpoint is stability or regression of existing enhancing lesions or no development of new enhancing lesions in the brain and spine observed in MRI evaluation after 13 weeks and up to 73 weeks of ruloxitinib (10 mg BID) compared to pre-treatment MRI images.

  Baseline, up to 13 weeks

• Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib

  The primary endpoint is stability or regression of existing enhancing lesions or no development of new enhancing lesions in the brain and spine observed in MRI evaluation after 13 weeks and up to 73 weeks of ruloxitinib (10 mg BID) compared to pre-treatment MRI images.

  13 weeks up to 72 weeks

Study Arms (1)

Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease

EXPERIMENTAL

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.

Drug: Ruxolitinib

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.

Also known as: Jakafi

Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may not qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Malignant Atrophic Papulosis

Interventions

ruxolitinib

Condition Hierarchy (Ancestors)

Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases; Vasculitis; Skin Diseases, Vascular; Skin Diseases; Skin and Connective Tissue Diseases

Results Point of Contact

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

cornelia.cudrici@nih.gov

301.451.7070

Study Officials

• Cornelia D Cudrici, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 17, 2023
• First Posted: August 21, 2023
• Study Start: September 28, 2023
• Primary Completion: February 28, 2025
• Study Completion: February 28, 2025
• Last Updated: February 3, 2026
• Results First Posted: February 3, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Time Frame: Data will be made available 6 months after publication date for a period of 5 year.
• Access Criteria: send request to cornelia.cudrici@nih.gov

Locations

US (1)