Protocol Details
Single Patient Study of JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
This study is NOT currently recruiting participants.
Summary
Number |
001517-H |
Sponsoring Institute |
National Heart, Lung and Blood Institute (NHLBI) |
Recruitment Detail |
Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18 Years
Max Age: 100 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
Children |
Keywords |
Rare Small Vessel Vasculopathy Of Unknown Etiology;
Kohlmeier Degos Disease With Neurologic Involvement |
Recruitment Keyword(s) |
None |
Condition(s) |
Kohlmeier Degos Disease With Neurologic Involvement |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
Drug: Ruxolitinib
|
Supporting Site |
National Heart, Lung, and Blood Institute |
Background:
Kohlmeier-Degos (K-D) is a rare disease that leads to the blockage of small blood vessels in many organs; these can include the skin, eyes, stomach, 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 subject, a 58-year-old male with K-D affecting the CNS.
Design:
The participant will be screened:
He will have a physical exam and blood tests.
He will have skin biopsies: Small samples of skin will be removed.
He will have a lumbar puncture: A needle will be inserted in his back to draw fluid from the space around the spinal cord.
He will have a magnetic resonance imaging (MRI) scan: He will lie on a table that slides into a tube to take pictures of his brain and spinal cord.
He 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 tests will be repeated on different visits. The participant may receive follow-up phone calls between visits. He 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.
Eligibility
INCLUSION CRITERIA:
The study design was constructed to treat one subject, a 58 year old male with CNS Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.
EXCLUSION CRITERIA:
- 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
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT05998395