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

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 Overview

• Status: Withdrawn
• Conditions: WHIM Syndrome
• Intervention / Treatment: Other: No intervention

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 Type: Observational

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients diagnoses with WHIM syndrome.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of infections	Infections assessed by hospitalizations (including intensive care), antibiotic use, outpatient medical appointments and missed days of school/work.	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
Incidence of warts		Up to five years, from time of enrollment through study completion or early termination
Severity of warts	Warts assessed by number and size of lesions, need for surgical, systemic or topical treatment and complications.	Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time	Quality of life as assessed by the quality of life instrument the 36-Item Short Form Survey (SF-36)	Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time	Quality of life as assessed by the quality of life instrument the Pediatric Quality of Life Inventory (Peds-QL)	Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time	Quality of life as assessed by the quality of life instrument the Life Quality Index (LQI)	Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time	Quality of life as assessed by the quality of life instrument the HPV Impact Profile (HIP)	Up to five years, from time of enrollment through study completion or early termination
Change in medical resource utilization		Up to five years, from time of enrollment through study completion or early termination
Change in absolute neutrophil count (ANC) over time		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
Changes in anti-vaccine antibodies over time		Up to five years, from time of enrollment through study completion or early termination

Collaborators and Investigators

• Sponsor: X4 Pharmaceuticals
• Investigators: Study Director: Sudha Parasuraman, MD, X4 Pharmaceuticals, Inc.

Study record dates

Study Major Dates

• Study Start (Anticipated): June 1, 2018
• Primary Completion (Anticipated): March 1, 2022
• Study Completion (Anticipated): March 1, 2022

Study Registration Dates

• First Submitted: March 10, 2017
• First Submitted That Met QC Criteria: March 15, 2017
• First Posted (Actual): March 22, 2017

Study Record Updates

• Last Update Posted (Actual): December 7, 2018
• Last Update Submitted That Met QC Criteria: December 5, 2018
• Last Verified: December 1, 2018

More Information

Terms related to this study

• Keywords: Warts; Infections; Neutropenia; Myelokathexis; Hypogammaglobulinemia; Herpes; Human papillomavirus (HPV); CXCR4 Mutation; Primary immunodeficiency disorder
• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Virus Diseases; Infections; Immune System Diseases; Disease; DNA Virus Infections; Skin Diseases, Infectious; Papillomavirus Infections; Skin Diseases, Viral; Tumor Virus Infections; Syndrome; Immunologic Deficiency Syndromes; Warts
• Other Study ID Numbers: X4-WHIM-NTHX

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No