Analysis of Patients Treated for Wiskott-Aldrich Syndrome Since January 1, 1990 (RDCRN PIDTC-6904)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 305
- 试验地点
- 43
- 主要终点
- Longitudinal Analysis: Overall Survival From Time of HCT/Gene Therapy
研究概览
简要总结
Wiskott - Aldrich syndrome (WAS) is a rare serious medical condition that causes problems both with the immune system and with easy bruising and bleeding. The immune abnormalities cause patients with WAS to be very susceptible to infections. Depending on the specific type of primary immune deficiency diseases, there are effective treatments, including antibiotics, cellular therapy and gene therapy, but studies of large numbers of patients are needed to determine the full range of causes, natural history, or the best methods of treatment for long term success.
This multicenter study combines retrospective, prospective and cross-sectional analyses of the transplant experiences for patients with WAS who have already received HCT since 1990, or who will undergo Hematopoietic cell transplant (HCT) during the study period. The retrospective and prospective portions of the study will address the impact of a number of pre and post-transplant factors on post-transplant disease correction and ultimate benefit from HCT and the cross-sectional portion of the study will assess the benefit of HCT 2 years post-HCT in consenting surviving 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
- Male
- 接受健康志愿者
- 否
入选标准
- •WAS participants will be defined as males who have:
- •thrombocytopenia (< 100K) AND EITHER molecular diagnosis of WAS OR reduced WASP expression; OR
- •thrombocytopenia (< 100K) AND positive family history consistent with WAS diagnosis; OR
- •chronic thrombocytopenia (< 100K for minimum of 3 months) AND low mean platelet volume (MPV below normal range for age) AND EITHER recurrent and/or severe infections requiring treatment and/or eczema OR lack of antibody response to polysaccharide antigens or low IgM.
- •Longitudinal Analysis (Retrospective and Prospective)
- •Stratum A. Participants with WAS who have or will Receive HCT
- •Participants with WAS who have received an HCT since January 1, 1990
- •Stratum B. Participants with WAS who have or will Receive Gene Transfer
- •Participants in which the intention is to treat with gene transfer with autologous modified cells
- •Cross-Sectional Analysis (Strata A and B)
- •Participants with WAS who are surviving and at least 2 years after the most recent HCT or gene therapy.
排除标准
- •As this is a natural history study, for both the Longitudinal Analysis and the Cross-Sectional Analysis we will not exclude any patients due to race or age who fit the inclusion criteria.
结局指标
主要结局
Longitudinal Analysis: Overall Survival From Time of HCT/Gene Therapy
时间窗: an expected average of 5 years
The event analyzed is death from any cause. The time to this event is the time from HCT/gene therapy to death or last follow-up.
Cross-sectional Analysis: Day of Recovery of Platelet Count to 20,000 / uL
时间窗: an expected average of 5 years
Day of Recovery of Platelet Count to 20,000 / uL is defined as the first day of at least 3 laboratory values obtained on different days where the platelet count was measured as 20,000 / uL or greater, AND without platelet transfusions for at least 7 consecutive days immediately preceding this day.
Cross-Sectional Analysis: Proportion of Participants Achieving Full T Cell Reconstitution
时间窗: an expected average of 5 years
Full T cell reconstitution is defined by all of the following: * CD3 cell count within normal range for age. * CD4 cell count within normal range for age. * CD8 cell count within normal range for age * Donor T cell chimerism \> 95% * Lymphocyte proliferation to PHA. Proliferative responses to PHA within the normal range (at or above the lower limit of normal). When possible the proliferation to PHA should be calculated as a percentage of the lower limit of normal controls for that laboratory; alternatively, the lower limit of normal controls for the day may be used
Cross-Sectional Analysis: Proportion of Participants Achieving Full B Cell Reconstitution
时间窗: an expected average of 5 years
Full B cell reconstitution is defined by all of the following: * Quantitative immunoglobulins (IgG, IgM, and IgA) within normal range; each immunoglobulin level will be assessed separately. * Serologic confirmation of post immunization tetanus titer in protective range. * Serologic confirmation of post immunization pneumococcal titers in protective range (protective titers for \> 50% of the serotypes contained in the vaccine) following immunization
Cross-sectional Analysis: Day of Recovery of Platelet Count to 50,000 / uL
时间窗: an expected average of 5 years
Day of Recovery of Platelet Count to 50,000 / uL is defined as the first day of at least 3 laboratory values obtained on different days where the platelet count was measured as 50,000 / uL or greater, AND without platelet transfusions for at least 7 consecutive days immediately preceding this day.
Cross-Sectional Analysis: Proportion of Participants Achieving Resolution of thrombocytopenia
时间窗: an expected average of 5 years
Resolution of thrombocytopenia defined by Platelets ≥ 150,000/microliter (transfusion independent for at least 7 consecutive days)
Cross-Sectional Analysis: Day of Recovery of Absolute Neutrophil Count (ANC) to 500 / uL
时间窗: an expected average of 5 years
Day of Recovery of Absolute Neutrophil Count (ANC) to 500 / uL is defined as the first day of at least 3 different days the ANC is measured as 500 / uL or greater
次要结局
- Longitudinal Analysis: Proportion of Participants Achieving Hematologic Reconstitution(an expected average of 5 years)
- Longitudinal Analysis: State of Lineage Specific Chimerism (HCT Stratum)(an expected average of 5 years)
- Longitudinal Analysis: Incidence of Acute GVHD(an expected average of 5 years)
- Cross-sectional Analysis: Current frequency and severity of infections(an expected average of 5 years)
- Longitudinal Analysis: Proportion of Participants Achieving Full B Cell Immune Reconstitution(an expected average of 5 years)
- Longitudinal Analysis: Definition of Graft Failure / Rejection(an expected average of 5 years)
- Longitudinal Analysis: Autoimmunity disorders(an expected average of 5 years)
- Cross-sectional Analysis: fertility(an expected average of 5 years)
- Cross-sectional Analysis: malignancy(an expected average of 5 years)
- Longitudinal Analysis: Day of Recovery of Absolute Neutrophil Count (ANC) to 500 / uL(an expected average of 5 years)
- Longitudinal Analysis: Day of Recovery of Platelet Count to 20,000 / uL(an expected average of 5 years)
- Longitudinal Analysis: Day of Recovery of Platelet Count to 50,000 / uL(an expected average of 5 years)
- Longitudinal Analysis: Growth(an expected average of 5 years)
- Cross-sectional Analysis: Current State of Lineage Specific Chimerism (HCT Stratum)(an expected average of 5 years)
- Cross-sectional Analysis: Severe Bleeding Episodes(an expected average of 5 years)
- Longitudinal Analysis: Proportion of Participants Achieving Full T Cell Immune Reconstitution(an expected average of 5 years)
- Longitudinal Analysis: Malignancy(an expected average of 5 years)
- Longitudinal Analysis: Infections / blood borne infections(an expected average of 5 years)
- Cross-sectional Analysis: Quality of Life Questionnaire(an expected average of 5 years)
- Longitudinal Analysis: Severe bleeding episodes(an expected average of 5 years)
- Longitudinal Analysis: Incidence of Chronic GVHD(an expected average of 5 years)
- Cross-Sectional Analysis: Graft-versus-host Disease (GvHD)(an expected average of 5 years)
- Cross-Sectional Analysis: Autoimmunity Disorders(an expected average of 5 years)
- Cross-sectional Analysis: Current Status of Growth(an expected average of 5 years)