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Company Decision
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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | No intervention |
| 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) |
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Inclusion Criteria:
Exclusion Criteria:
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Patients diagnoses with WHIM syndrome.
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| Name | Affiliation | Role |
|---|---|---|
| Sudha Parasuraman, MD | X4 Pharmaceuticals, Inc. | Study Director |
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| ID | Term |
|---|---|
| C536697 | WHIM syndrome |
| D000081207 | Primary Immunodeficiency Diseases |
| D014860 | Warts |
| D000361 | Agammaglobulinemia |
| D007239 | Infections |
| D009503 | Neutropenia |
| D006561 | Herpes Simplex |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |
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Blood or buccal swab for the purposes of identifying a CXCR4 mutation.
| 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 |
| D030361 | Papillomavirus Infections |
| D004266 | DNA Virus Infections |
| D014777 | Virus Diseases |
| D017193 | Skin Diseases, Viral |
| D014412 | Tumor Virus Infections |
| D012874 | Skin Diseases, Infectious |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D001796 | Blood Protein Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D008232 | Lymphoproliferative Disorders |
| D008206 | Lymphatic Diseases |
| D000380 | Agranulocytosis |
| D007970 | Leukopenia |
| D000095542 | Cytopenia |
| D007960 | Leukocyte Disorders |
| D006566 | Herpesviridae Infections |