A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 主要终点
- Severity of infections
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Has a confirmed clinical diagnosis of WHIM syndrome.
- •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.
- •Be willing and able to comply with the study protocol.
排除标准
- •Has, within 6 months prior to Day 1, received a CXCR4 antagonist.
- •Currently participating in an investigational study for treatment of WHIM.
- •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.
结局指标
主要结局
Severity of infections
时间窗: Up to five years, from time of enrollment through study completion or early termination
Change in absolute lymphocyte count (ALC) over time
时间窗: Up to five years, from time of enrollment through study completion or early termination
Change in serum immunoglobulin over time
时间窗: Up to five years, from time of enrollment through study completion or early termination
Severity of warts
时间窗: 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.
Incidence of infections
时间窗: 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.
Incidence of warts
时间窗: Up to five years, from time of enrollment through study completion or early termination
Change in quality of life over time
时间窗: 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 HPV Impact Profile (HIP)
Change in medical resource utilization
时间窗: Up to five years, from time of enrollment through study completion or early termination
Change in absolute neutrophil count (ANC) over time
时间窗: Up to five years, from time of enrollment through study completion or early termination
Changes in anti-vaccine antibodies over time
时间窗: Up to five years, from time of enrollment through study completion or early termination
次要结局
未报告次要终点