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

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Other
  • Study Primary Completion Date: March 2022

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.

Interventions

  • Other: No intervention
    • No intervention

Clinical Trial Outcome Measures

Primary Measures

  • Incidence of infections
    • Time Frame: 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.
  • Severity of infections
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Incidence of warts
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Severity of warts
    • Time Frame: 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.
  • Change in quality of life over time
    • Time Frame: 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 36-Item Short Form Survey (SF-36)
  • Change in quality of life over time
    • Time Frame: 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 Pediatric Quality of Life Inventory (Peds-QL)
  • Change in quality of life over time
    • Time Frame: 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 Life Quality Index (LQI)
  • Change in quality of life over time
    • Time Frame: 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
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Change in absolute neutrophil count (ANC) over time
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Change in absolute lymphocyte count (ALC) over time
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Change in serum immunoglobulin over time
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination
  • Changes in anti-vaccine antibodies over time
    • Time Frame: Up to five years, from time of enrollment through study completion or early termination

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • X4 Pharmaceuticals
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Sudha Parasuraman, MD, Study Director, X4 Pharmaceuticals, Inc.

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