WithdrawnNot Applicable

A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome

Stopped: Company Decision

0Started 2018-06

Plain-language summary

This natural history study is a prospective and retrospective, observational study of WHIM patients. WHIM syndrome is a rare, genetic, primary immunodeficiency disorder (a disorder in which the body's immune system does not function properly). WHIM is an acronym for some of the symptoms of the disorder - Warts, Hypogammaglobulinemia (low levels of certain antibodies), Infections and Myelokathexis (too many white blood cells in the bone marrow).This study includes 10-year retrospective (Retrospective Phase) and up to 5-year prospective (Prospective Phase) components.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Has a confirmed clinical diagnosis of WHIM syndrome.
. Has signed the current approved informed consent form; patients under 18 years of age will sign an approved informed assent form and must also have a signed parental consent.
. Be willing and able to comply with the study protocol.

Exclusion criteria

. Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
. Currently participating in an investigational study for treatment of WHIM.
. Has any other medical or personal condition that, in the opinion of the Investigator, may potentially compromise the safety or compliance of the patient, or may preclude the patient's successful completion of the clinical study.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Incidence of infections

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Severity of infections

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Incidence of warts

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Severity of warts

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time

Trial details

NCT IDNCT03087370

SponsorX4 Pharmaceuticals

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2022-03

View on ClinicalTrials.gov More WHIM Syndrome trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Has a confirmed clinical diagnosis of WHIM syndrome.
. Has signed the current approved informed consent form; patients under 18 years of age will sign an approved informed assent form and must also have a signed parental consent.
. Be willing and able to comply with the study protocol.

Exclusion criteria

. Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
. Currently participating in an investigational study for treatment of WHIM.
. Has any other medical or personal condition that, in the opinion of the Investigator, may potentially compromise the safety or compliance of the patient, or may preclude the patient's successful completion of the clinical study.

What they're measuring

Incidence of infections

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Severity of infections

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Incidence of warts

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Severity of warts

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time

Timeframe: Up to five years, from time of enrollment through study completion or early termination

Change in quality of life over time