WHIM Syndrome
Conditions
Keywords
CXCR4 Mutation, Primary immunodeficiency disorder, Warts, Hypogammaglobulinemia, Infections, Myelokathexis, Human papillomavirus (HPV), Neutropenia, Herpes
Brief 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.
Interventions
OTHERNo intervention
No intervention
Sponsors
X4 Pharmaceuticals
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of infections | 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 | 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 | 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 | 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 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 | — |
Outcome results
None listed