Baricitinib in the Treatment of Kohlmeier-Degos Disease in Patients With Neurological Involvement

NCT06923072 | Recruiting Phase 2 FDA Drug

• 2 other identifiers: 10002416002416-H
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Kohlmeier-Degos (KD) is a rare disease that causes inflammation and blood clots, leading to blockages in small blood vessels. These blockages can result in K-D lesions throughout the body, affecting the skin, lungs, heart, spinal cord, and brain. KD can be fatal. No treatment exists for this disease. Objective: To test a study drug (baricitinib) in people with brain and spine lesions caused by KD disease. Baricitinib is FDA approved to treat other disorders but has not yet been tried in people with KD. Eligibility: People aged 18 years or older with KD-related lesions in the brain and spine. Design: Participants will be screened; they will have a physical exam with blood tests. They will also have a baseline visit that may include multiple tests, such as imaging scans of the brain and spine; a lumbar puncture to collect fluid from the spinal canal; and a meeting with a neurologist. They will fill out a questionnaire about their health. They will continue to take their normal medications throughout the study. Baricitinib is a tablet taken by mouth. Participants will remain on their normal medications for 12 weeks after their baseline visit. Then they will also take the study drug once a day at home for 24 weeks. Participants will have clinic visits every few weeks for up to 40 weeks. Some visits may take 1 to 4 days. Baseline tests will be repeated 3 more times during study visits. Other visits will require only blood tests; these may be done by local labs that will send the samples to NIH; 2 visits may be done via telehealth....

Conditions

Kohlmeier-Degos Disease; Degos Disease; Papulosis, Malignant Atrophic; Malignant Atrophic Papulosis

Keywords

Degos Disease; Kohlmeier-Degos; Baricitinib; Neurological involvement of Degos Disease

Outcome Measures

Primary Outcomes (2)

• Number of participants with stability of existing enhancing lesions in the brain and/or spine observed in MRI

  Stability of existing enhancing lesions in the brain and/or spine observed in MRI after 12 or 24 weeks of baricitinib treatment (4 mg daily) as compared to MRI images after 12 weeks of background therapy only.

  Baseline, Week 12, Week 24, Week 36

• Number of participants with no new enhancing lesions in the brain and/or spine observed in MRI

  Lack of development of new enhancing lesions in the brain and/or spine observed in MRI after 12 or 24 weeks of baricitinib treatment (4 mg daily) as compared to MRI images after 12 weeks of background therapy only.

  Baseline, Week 12, Week 24, Week 36

Secondary Outcomes (2)

• Change in health outcome questionnaire, Short Form-36 (SF-36)

  Baseline, Week 12, Week 16, Week 24, Week 36, and up to Week 40

• Neurological symptoms using CTCAE

  Up to 40 weeks

Study Arms (1)

Participants with K(SqrRoot)(Delta)hlmeier-Degos Disease receiving Baricitinib

EXPERIMENTAL

All participants will take baricitinib 4mg oral daily for 24 weeks.

Drug: Baricitinib

Interventions

Baricitinib DRUG

Participants will be instructed to take baricitinib 4mg oral daily for 24 weeks (with or without food)

Participants with K(SqrRoot)(Delta)hlmeier-Degos Disease receiving Baricitinib

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• Provision of signed and dated informed consent form by the subject or Legally Authorized Representative (LAR).
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Male or female, aged 18 or older.
• Subjects diagnosed with systemic Degos disease, who manifest neurologic abnormalities observed clinically, radiologically or in abnormal laboratory findings.
• Ability to take oral medication and be willing to adhere to the baricitinib regimen.
• For female patients of reproductive potential, non-pregnant, non-breastfeeding: agree to use of highly effective contraception for the duration of the study and 30 days after the last dose.
• Ability of subject or LAR to understand and the willingness to sign a written informed consent document.

You may not qualify if:

• Active infection not responding to appropriate therapy
• Hemoglobin \<7 g/dL
• Platelet counts \< 50 K /mcL
• Neutropenia (ANC \<0.5 x k/mcL)
• Lymphopenia (Absolute Lymphocyte Count \[ALC\] \<0.2x k/mcL)
• Liver function tests (LFTs \> 2x time upper limit of normal)
• Estimated Glomerular Filtration Rate (eGFR)/Creatinine (Cr \< 30 mL/min)
• Have experienced any of the following within 12 weeks of screening: VTE (DVT/pulmonary embolism \[PE\]), myocardial infarction (MI), unstable ischemic heart disease, stroke, or New York Heart Association Stage III/IV heart failure.
• Have had symptomatic herpes zoster infection within 12 weeks prior to a enrolling in the study .
• Have had household contact with a person with active TB and did not receive appropriate and documented prophylaxis for TB.
• Have evidence of active TB or latent TB
• Have been exposed to a live vaccine within 12 weeks of baricitinib treatment or are expected to need/receive a live vaccine during the course of the study
• No gadolinium based contrast agent exposure is permitted if eGFR \< 30 mL/min/1.73m\^2 using the CKD-EPI equation measured within 5 days .
• Breast feeding
• Pregnancy

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Malignant Atrophic Papulosis

Interventions

baricitinib

Condition Hierarchy (Ancestors)

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

Study Officials

• Cornelia D Cudrici, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

William R Whalen, C.R.N.P.

CONTACT

(301) 402-9841; william.whalen@nih.gov

Cornelia D Cudrici, M.D.

CONTACT

(240) 515-5540; cornelia.cudrici@nih.gov

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 10, 2025
• First Posted: April 11, 2025
• Study Start: February 18, 2026
• Primary Completion (Estimated): December 14, 2030
• Study Completion (Estimated): December 15, 2030
• Last Updated: February 27, 2026

Record last verified: 2026-02-24

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Starting approximately 6 months after publication and available indefinitely
• Access Criteria: Data will be shared through the NHLBI BioData Catalyst, which is a controlled access repository.

Locations

US (1)