Ruxolitinib for Kohlmeier-Degos Disease

Overseen By Cornelia D Cudrici, M.D.

Age: 18+

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Disqualifiers: Infections, Hemoglobin, Platelet, Neutropenia, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 2 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 8

Duration: 26-73 weeks

Trial Summary

What is the purpose of this trial?

This trial tests ruxolitinib, a pill that reduces inflammation, in a 58-year-old man with a rare disease affecting his brain and spinal cord. The drug aims to block certain proteins to reduce inflammation and slow the disease's progression. Ruxolitinib has been used successfully in treating various conditions and has shown promise in skin-related issues.

Research Team

Cornelia D Cudrici, M.D.

Principal Investigator

National Heart, Lung, and Blood Institute (NHLBI)

Eligibility Criteria

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.

Inclusion Criteria

I am a 58-year-old male with CNS Kohlmeier Degos Disease.

Exclusion Criteria

Your kidney function is very low, with an eGFR/CreatCr level less than 30 mL/min.

Your platelet count is less than 50,000 per microliter of blood.

Your white blood cell count is too low.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

1-2 weeks

1 visit (in-person)

Treatment

Participant receives ruxolitinib treatment, starting with 5 mg BID for 1 week, then 10 mg BID for 13-73 weeks

26-73 weeks

Up to 7 visits (in-person) over 28 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Follow-up phone calls

Treatment Details

Interventions

• Ruxolitinib

Trial Overview 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.

Participant Groups

Group I: Ruxolitinib Experimental Treatment 1 Intervention

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.

Ruxolitinib is already approved in United States, European Union for the following indications:

Approved in United States as Jakafi for:

• Intermediate or high-risk myelofibrosis
• Polycythemia vera
• Steroid-refractory acute graft-versus-host disease
• Chronic graft-versus-host disease
• Vitiligo

Approved in European Union as Jakavi for:

• Intermediate or high-risk myelofibrosis
• Polycythemia vera
• Steroid-refractory acute graft-versus-host disease
• Chronic graft-versus-host disease
• Non-segmental vitiligo

Who Is Running the Clinical Trial?

National Heart, Lung, and Blood Institute (NHLBI)

Lead Sponsor

Trials

3,987

Recruited

47,860,000+