This study is currently recruiting participants.
Number
001517-H
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled 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)
Investigational Device(s)
Intervention(s)
Drug: Ruxolitinib
Supporting Site
National Heart, Lung, and Blood Institute
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.
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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
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
Principal Investigator
Referral Contact
For more information: