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

Withdrawn

• Conditions: WHIM Syndrome

• Registration Number: NCT03087370
• Lead Sponsor: X4 Pharmaceuticals

Brief 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.

Detailed Description

Given the rarity of patients with WHIM syndrome, this study is being conducted to better understand the clinical course of untreated patients with WHIM syndrome.

The goals of this Natural History Study are to define both the frequency and diversity of WHIM syndrome by specific genetic mutation, as well as to understand the clinical course and phenotype of untreated WHIM patients.

Study Timeline

• Study First Submitted: 2017-03-10
• Study First Submitted QC: 2017-03-15
• Study First Posted: 2017-03-22
• Study Start: 2018-06
• Status Verified: 2018-12
• Last Update Submitted: 2018-12-05
• Last Update Posted: 2018-12-07
• Primary Completion: 2022-03
• Study Completion: 2022-03

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

1. Has a confirmed clinical diagnosis of WHIM syndrome.
2. 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.
3. Be willing and able to comply with the study protocol.

Exclusion Criteria

1. Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
2. Currently participating in an investigational study for treatment of WHIM.
3. 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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in absolute neutrophil count (ANC) over time	Up to five years, from time of enrollment through study completion or early termination
Severity of infections	Up to five years, from time of enrollment through study completion or early termination
Change in absolute lymphocyte count (ALC) over time	Up to five years, from time of enrollment through study completion or early termination
Change in serum immunoglobulin over time	Up to five years, from time of enrollment through study completion or early termination
Severity of warts	Up to five years, from time of enrollment through study completion or early termination	Warts assessed by number and size of lesions, need for surgical, systemic or topical treatment and complications.
Incidence of infections	Up to five years, from time of enrollment through study completion or early termination	Infections assessed by hospitalizations (including intensive care), antibiotic use, outpatient medical appointments and missed days of school/work.
Incidence of warts	Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time	Up to five years, from time of enrollment through study completion or early termination	Quality of life as assessed by the quality of life instrument the HPV Impact Profile (HIP)
Change in medical resource utilization	Up to five years, from time of enrollment through study completion or early termination
Changes in anti-vaccine antibodies over time	Up to five years, from time of enrollment through study completion or early termination