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JAK Inhibitor

Ruxolitinib for Kohlmeier-Degos Disease

Phase 1 & 2
Recruiting
Led By Cornelia D Cudrici, M.D.
Research Sponsored by National Heart, Lung, and Blood Institute (NHLBI)
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Be older than 18 years old
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 6 months
Awards & highlights

Study Summary

This trial tests the drug ruxolitinib to treat a rare disease, Kohlmeier-Degos, that affects the brain and spinal cord. It involves physical exams, skin biopsies, MRI scans, and lumbar punctures. The participant will take the drug for up to 26 weeks and have 7 clinic visits.

Who is the study for?
This trial is specifically for a single participant, a 58-year-old male with CNS Kohlmeier-Degos Disease. He must not have critically low blood cell counts, severe liver or kidney dysfunction, or any active life-threatening infections to be eligible.Check my eligibility
What is being tested?
The trial is testing the effectiveness of Ruxolitinib, an oral medication taken twice daily for up to 26 weeks in treating CNS Kohlmeier-Degos Disease. The patient will undergo various tests including MRI scans and biopsies throughout the study.See study design
What are the potential side effects?
Potential side effects of Ruxolitinib may include changes in blood cell counts leading to increased infection risk, bleeding issues, liver function alterations, and other organ-related inflammations.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~6 months
This trial's timeline: 3 weeks for screening, Varies for treatment, and 6 months for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
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.

Side effects data

From 2020 Phase 3 trial • 149 Patients • NCT02038036
33%
Anaemia
19%
Hypertension
17%
Nasopharyngitis
16%
Weight increased
14%
Herpes zoster
14%
Constipation
14%
Abdominal pain
14%
Headache
12%
Pruritus
12%
Back pain
12%
Epistaxis
12%
Pyrexia
12%
Dizziness
10%
Asthenia
10%
Fatigue
10%
Cough
10%
Oedema peripheral
10%
Arthralgia
9%
Thrombocytosis
9%
Upper respiratory tract infection
9%
Hypercholesterolaemia
7%
Dyslipidaemia
7%
Pain in extremity
7%
Haematoma
7%
Abdominal discomfort
7%
Diarrhoea
7%
Dyspepsia
7%
Vomiting
7%
Blood lactate dehydrogenase increased
7%
Memory impairment
7%
Dyspnoea
5%
Tinnitus
5%
Osteoarthritis
5%
Leukocytosis
5%
Thrombocytopenia
5%
Flatulence
5%
Nausea
5%
Sinusitis
5%
Basal cell carcinoma
5%
Neuropathy peripheral
5%
Hyperuricaemia
3%
Cystitis
3%
Bronchitis
3%
Blood creatine phosphokinase increased
3%
Paraesthesia
3%
Skin ulcer
3%
Abdominal pain upper
3%
Pulmonary embolism
3%
Pneumonia
3%
Influenza
3%
Myalgia
3%
Urinary tract infection
3%
Depression
2%
Vertigo
2%
Localised infection
2%
Urethral stenosis
2%
Night sweats
2%
Acute pulmonary oedema
2%
Intervertebral disc protrusion
2%
Peripheral artery thrombosis
2%
Ureterolithiasis
2%
Pericardial effusion
2%
Acute myocardial infarction
2%
Syncope
2%
Gastrooesophageal reflux disease
2%
General physical health deterioration
2%
Atrial fibrillation
2%
Cardiac disorder
2%
Mitral valve incompetence
2%
Vertigo positional
2%
Retinal artery occlusion
2%
Visual acuity reduced
2%
Gastrointestinal haemorrhage
2%
Oesophageal varices haemorrhage
2%
Lower respiratory tract infection
2%
Pyelonephritis
2%
Respiratory tract infection
2%
Sepsis
2%
Tendon rupture
2%
Ulna fracture
2%
Weight decreased
2%
Decreased appetite
2%
Hyponatraemia
2%
Blast cell crisis
2%
Bone marrow tumour cell infiltration
2%
Lung adenocarcinoma
2%
Metastases to spine
2%
Myelofibrosis
2%
Prostatic adenoma
2%
Squamous cell carcinoma of skin
2%
Nephrolithiasis
2%
Gamma-glutamyltransferase increased
2%
Haematocrit increased
2%
Musculoskeletal pain
2%
Ischaemic stroke
2%
Diabetes mellitus
100%
80%
60%
40%
20%
0%
Study treatment Arm
All Crossover Patients
Best Available Therapy
Ruxolitinib

Trial Design

1Treatment groups
Experimental Treatment
Group I: RuxolitinibExperimental Treatment1 Intervention
Ruxolitinib at 5 mg twice a day (BID) for 1 week and then at 10 mg BID for 13-24 weeks and 1 week of 5 mg BID before stopping ruxolitinib.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Ruxolitinib
2018
Completed Phase 3
~1140

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.
Mechanism Of Action
Side Effect Profile
Prior Approvals
Other Research
Ruxolitinib, a Janus kinase (JAK) inhibitor, works by blocking the JAK-STAT signaling pathway, which is involved in the inflammatory response and immune regulation. This pathway is often overactive in various inflammatory and autoimmune conditions. By inhibiting this pathway, ruxolitinib can reduce inflammation and potentially prevent the blockage of small blood vessels, which is a hallmark of Kohlmeier Degos Disease. This mechanism is particularly important for patients with Kohlmeier Degos Disease as it addresses the underlying inflammatory processes that contribute to the disease's progression and severity.
Systematic review with meta-analysis: efficacy and safety of oral Janus kinase inhibitors for inflammatory bowel disease.[Severe MDA5 dermatomyositis associated with cancer and controlled by JAK inhibitor].New and emerging combination therapies for esophageal cancer.

Find a Location

Who is running the clinical trial?

National Heart, Lung, and Blood Institute (NHLBI)Lead Sponsor
3,848 Previous Clinical Trials
47,818,261 Total Patients Enrolled
Cornelia D Cudrici, M.D.Principal InvestigatorNational Heart, Lung, and Blood Institute (NHLBI)

Media Library

Ruxolitinib (JAK Inhibitor) Clinical Trial Eligibility Overview. Trial Name: NCT05998395 — Phase 1 & 2
Kohlmeier Degos Disease Research Study Groups: Ruxolitinib
Kohlmeier Degos Disease Clinical Trial 2023: Ruxolitinib Highlights & Side Effects. Trial Name: NCT05998395 — Phase 1 & 2
Ruxolitinib (JAK Inhibitor) 2023 Treatment Timeline for Medical Study. Trial Name: NCT05998395 — Phase 1 & 2
~1 spots leftby Mar 2025