CompletedPhase 2/3

Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome

United States20 participantsStarted 2014-10-14

Plain-language summary

Background: \- WHIMS (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome) is a rare disease. It can cause cancers, infections, and warts. Researchers want to see if a drug called plerixafor can treat WHIMS. Objective: \- To compare plerixafor versus granulocyte colony stimulating factor (G-CSF) for preventing infections in people with WHIMS. Eligibility: \- People ages 10-75 with WHIMS who have a CXCR4 gene mutation. Design: * Participants will be screened with a medical history, physical exam, and blood and urine tests. They may have heart and spleen tests and body scans. They may have samples of skin or warts taken. Researchers may take photographs of warts. * Participants will start twice daily self-injections of G-CSF. Their doctors will decide the dosage. * Initial Period (4-12 weeks) * Participants will: * continue the injections and their usual antibiotics and/or immunoglobulin * have blood drawn * keep a daily health diary * Participants will visit the clinic for 2 days without injections. * Adjustment Period 1 (8 weeks): * Participants will: * continue twice daily injections from home * continue the daily health diary * have blood tests every 2 weeks. * Treatment Year 1: * Participants will * receive either plerixafor or G-CSF injections twice daily * continue the health diary * have blood tests every 2 months * visit the clinic about every 4 months * At the end of year 1, participants will visit the clinic for an evaluation. They will switch to the other study drug. They will have an 8-week adjustment and 1-year treatment period. * At the end of year 2, participants will visit the clinic to complete their injections and go back to their previous G-CSF regimen. Participants will continue their daily health diary and have blood tests for 5-6 months.

Who can participate

Age range10 Years – 75 Years

SexALL

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Inclusion criteria

✓. Age greater than or equal to 10 and less than or equal to 75 years.
✓. Heterozygous mutation in the C-tail of CXCR4 in addition to a clinical diagnosis of WHIMS.
✓. Documented neutropenia with a baseline ANC below 1500 cells/microL of blood.
✓. History of severe and/or recurrent infections.
✓. Willingness to interrupt G-CSF medication, 2 days prior to study drug injection.
✓. Must have a local medical provider for medical management.
✓. Must be willing to provide blood, plasma, serum, and DNA samples for storage.
✓. All study subjects must agree not to become pregnant or impregnate a female. Women of childbearing potential must agree to take appropriate steps to avoid becoming pregnant for the duration of the study. Participants in whom pregnancy is biologically possible must use at least 2 study approved methods of contraception, one of which must be a barrier method, and must continue contraception until 5 months after stopping the study drug:

Exclusion criteria

What they're measuring

Severity of Infection

Timeframe: Scores from 12 months treatment on each study drug

Difference in Total Infection Severity Score

Timeframe: Scores from 12 months treatment on each study drug

Trial details

NCT IDNCT02231879

SponsorNational Institute of Allergy and Infectious Diseases (NIAID)

Sponsor typeNIH

Study typeINTERVENTIONAL

Primary completion2020-10-08

Results submitted2021-12-23

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