Kohlmeier Degos Disease With Neurologic InvolvementPhase 1/2NCT05998395
JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
A Phase 1/2 study testing Ruxolitinib in people with Kohlmeier Degos Disease With Neurologic Involvement and Kohlmeier-Degos Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Kohlmeier Degos Disease With Neurologic Involvement, Kohlmeier-Degos Disease
- What is being tested?
- Ruxolitinib
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Sep 2023to 28 Feb 2025
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- The study design was constructed to treat one participant with CNS Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Single Patient Study of JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
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.
Read more
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.
Read the detailed description
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.
Exploratory Objectives:
- Assess changes in immune cell proportion using single cell RNAseq (scRNA-seq) in biospecimens such as skin, cerebrospinal fluid (CSF) and blood after 13 weeks and up to 73 weeks of ruxolitinib treatment.
- Assess changes in plasma/serum cytokines levels and IFN scores as well as biomarker assays in CSF/ blood samples after 13 weeks and up to 73 weeks of ruxolitinib treatment..
- To test the hypothesis that ruxolitinib will stabilize or improve clinical neurologic exams in this patient.
Endpoints:
Primary Endpoint:
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.
Exploratory endpoints of this study are clinical and potential surrogate biomarker efficacy data, including:
- Changes in transcriptome/RNA expression determined by scRNA-seq in skin, CSF and peripheral blood mononuclear cells (PBMCs) between baseline measurements and after 13 weeks and up to 73 weeks of treatment.
- Attenuation of plasma/serum cytokine levels and IFN scores as well as biomarker assays in CSF and blood samples between the baseline visit and after 13 weeks and up to 73 weeks of treatment.
- Stability OR improvement of motor and/or sensory function on clinical neurologic exams between the baseline visit and after 13 weeks and up to 73 weeks of treatment.
- Being tested
- Ruxolitinib
- Keywords
- Rare Small Vessel Vasculopathy Of Unknown Etiology, Kohlmeier Degos Disease With Neurologic Involvement, Interferon Related Disease
- Medical subject headings
- Malignant Atrophic Papulosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RuxolitinibDrug
Also called Jakafi
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.
| Study group | Role | What they receive |
|---|---|---|
| Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease | Experimental | 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. Receives: Drug: Ruxolitinib |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib
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.
Measured: Baseline, up to 13 weeks
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib
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.
Measured: 13 weeks up to 72 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2023
- Study start28 Sep 2023
- Primary completion28 Feb 2025
- Study completion28 Feb 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Kohlmeier Degos Disease With Neurologic InvolvementStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Cornelia D Cudrici, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05998395
- Sponsor's protocol ID
- 10001517
- Other IDs
- 001517-H
- Status last verified
- Jan 2026
- First submitted
- 17 Aug 2023
- Last updated
- 3 Feb 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: Deidentified individual participant results data will be made available 6 months after publication date for a period of 5 year by sending a request.
Publications
Cudrici CD, Goel S, Sakamoto K, Jin SP, Sekiguchi A, Rosing DR, Huffstutler R, Hammoud DA, Shapiro L, Schwartz DM, Manohar-Sindhu S, Taylor ME, Zhang Y, Schaughency P, Cowen EW, Hasni S, Kaplan MJ, Kong HH, Boehm M, Nagao K. Kohlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy. Cell Rep Med. 2026 Jul 30:102947. doi: 10.1016/j.xcrm.2026.102947. Online ahead of print.
PubMed 42532045
Study at a glance
From the registry record, last updated by the sponsor on 3 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Single Patient Study of JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
- ClinicalTrials.gov ID
- NCT05998395
- Acronym / sponsor ID
- 10001517
- Keywords
- Rare Small Vessel Vasculopathy Of Unknown Etiology, Kohlmeier Degos Disease With Neurologic Involvement, Interferon Related Disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 28 Sep 2023 (actual)
- Primary completion
- 28 Feb 2025 (actual)
- Study completion
- 28 Feb 2025 (actual)
- First posted
- 21 Aug 2023 (actual)
- Results
- Posted 3 Feb 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Exploratory Objectives:
- Assess changes in immune cell proportion using single cell RNAseq (scRNA-seq) in biospecimens such as skin, cerebrospinal fluid (CSF) and blood after 13 weeks and up to 73 weeks of ruxolitinib treatment.
- Assess changes in plasma/serum cytokines levels and IFN scores as well as biomarker assays in CSF/ blood samples after 13 weeks and up to 73 weeks of ruxolitinib treatment..
- To test the hypothesis that ruxolitinib will stabilize or improve clinical neurologic exams in this patient.
Endpoints:
Primary Endpoint:
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.
Exploratory endpoints of this study are clinical and potential surrogate biomarker efficacy data, including:
- Changes in transcriptome/RNA expression determined by scRNA-seq in skin, CSF and peripheral blood mononuclear cells (PBMCs) between baseline measurements and after 13 weeks and up to 73 weeks of treatment.
- Attenuation of plasma/serum cytokine levels and IFN scores as well as biomarker assays in CSF and blood samples between the baseline visit and after 13 weeks and up to 73 weeks of treatment.
- Stability OR improvement of motor and/or sensory function on clinical neurologic exams between the baseline visit and after 13 weeks and up to 73 weeks of treatment.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease | Experimental | Drug: RuxolitinibRuxolitinib 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. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- The study design was constructed to treat one participant with CNS Kohlmeier Degos Disease. Therefore, there are no specific inclusion criteria.
Key exclusion criteria (7 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RuxolitinibAlso: JakafiRuxolitinib 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. | Drug | Ruxolitinib in Participants with CNS Kohlmeier-Degos Disease |
Primary outcome
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib
Time frame: 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
Time frame: 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.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Feb 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 42532045Cudrici CD, Goel S, Sakamoto K, Jin SP, Sekiguchi A, Rosing DR, Huffstutler R, Hammoud DA, Shapiro L, Schwartz DM, Manohar-Sindhu S, Taylor ME, Zhang Y, Schaughency P, Cowen EW, Hasni S, Kaplan MJ, Kong HH, Boehm M, Nagao K. Kohlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy. Cell Rep Med. 2026 Jul 30:102947. doi: 10.1016/j.xcrm.2026.102947. Online ahead of print.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Deidentified individual participant results data will be made available 6 months after publication date for a period of 5 year by sending a request.
Related trials for Kohlmeier Degos Disease With Neurologic Involvement
RecruitingPhase 2
Baricitinib in the Treatment of Kohlmeier-Degos Disease in Patients With Neurological Involvement
Kohlmeier-Degos Disease, Malignant Atrophic Papulosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Cornelia D Cudrici, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Ruxolitinib in people with Kohlmeier Degos Disease With Neurologic Involvement and Kohlmeier-Degos Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 3 Feb 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib (time frame: Baseline, up to 13 weeks). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05998395, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Feb 2026.