Single Patient Study of JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- To test the hypothesis that JAK/STAT inhibition by ruxolitinib will delay progression of neuroradiological manifestations of our one patient with neurological involvement of K-D disease.
研究概览
简要总结
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.
详细描述
Study Description:
This single patient protocol will provide off-label treatment with a JAK/STAT ( Janus kinases/ Signal transducer and Activator of Transcription proteins) inhibitor to a patient with Kohlmeier Degos disease (K-D) with neurologic involvement. We hypothesize that ruxolitinib, which targets type I IFN (Interferons ) and IFN-gamma signaling, will attenuate various neurological manifestations of K-D that are observed clinically, radiologically or in abnormal laboratory findings in our K-D patient. This will help reduce IFN signaling in a manner that may slow or halt the disease progression as measured by the endpoints established below.
Objectives:
Primary Objective:
To test the hypothesis that JAK/STAT inhibition by ruxolitinib will delay progression of neuroradiological manifestations of our one patient with neurological involvement of K-D disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •The study design was constructed to treat one participant with CNS Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.
排除标准
- •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
研究组 & 干预措施
Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease
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.
干预措施: Ruxolitinib (Drug)
结局指标
主要结局
To test the hypothesis that JAK/STAT inhibition by ruxolitinib will delay progression of neuroradiological manifestations of our one patient with neurological involvement of K-D disease.
时间窗: 6 months
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.
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib
时间窗: Baseline, up to 13 weeks
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.
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib
时间窗: 13 weeks up to 72 weeks
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.
次要结局
未报告次要终点