A Phase IIa Trial of Baricitinib in the Treatment of Kohlmeier-Degos Disease Patients With Neurological Involvement
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....
⁃ 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.