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

X4 Pharmaceuticals

Status: Withdrawn

Conditions: WHIM Syndrome

Treatments: Other: No intervention

Study type: Observational

Funder types: Industry

Identifiers

NCT03087370

X4-WHIM-NTHX

Details and patient eligibility

About

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.

Full 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.

Sex: All

Volunteers: No Healthy Volunteers

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.