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

WHIM Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT03087370
• Other study ID #: X4-WHIM-NTHX
• Status: Withdrawn
• Start date: June 2018
• Est. completion date: March 2022

Study information

• Verified date: December 2018
• Source: X4 Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: March 2022
• Est. primary completion date: March 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Immunologic Deficiency Syndromes
• Syndrome
• Warts
• WHIM Syndrome

Intervention

Other:
• No intervention
No intervention

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
X4 Pharmaceuticals

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	Severity of infections		Up to five years, from time of enrollment through study completion or early termination
Primary	Incidence of warts		Up to five years, from time of enrollment through study completion or early termination
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	Change in medical resource utilization		Up to five years, from time of enrollment through study completion or early termination
Primary	Change in absolute neutrophil count (ANC) over time		Up to five years, from time of enrollment through study completion or early termination
Primary	Change in absolute lymphocyte count (ALC) over time		Up to five years, from time of enrollment through study completion or early termination
Primary	Change in serum immunoglobulin over time		Up to five years, from time of enrollment through study completion or early termination
Primary	Changes in anti-vaccine antibodies over time		Up to five years, from time of enrollment through study completion or early termination