NCT03087370

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

• Status: Withdrawn
• Phase: —
• Study type: Observational
• Enrollment: 0 (actual)
• Sponsor: X4 Pharmaceuticals · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• WHIM Syndrome

Interventions

Type	Name	Description
OTHER	No intervention	No intervention

Timeline

• Start date: 2018-06-01
• Primary completion: 2022-03-01
• Completion: 2022-03-01
• First posted: 2017-03-22
• Last updated: 2018-12-07