Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 2
- 试验地点
- 2
- 主要终点
- Percentage of subjects that achieve and sustain >50% increase in Factor VIII antigen levels
研究概览
简要总结
The purpose of this study is to determine how female hemophilia A carriers respond to a medication called DDAVP (Desmopressin).
详细描述
DDAVP (Desmopressin) is commonly used in the treatment of persons with bleeding disorders such as hemophilia, von Willebrand disease, or qualitative platelet disorders to help them clot better. The investigator wants to assess the increase in the subjects' clotting factors in response to intravenous DDAVP (Desmopressin) and the levels of these internal clotting factors will be measured at different times after the medication is given. The investigator will compare the response to DDAVP (Desmopressin) in adult hemophilia A carriers to women with a diagnosis of qualitative platelet dysfunction.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 60 Years（Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Inclusion criteria for hemophilia A carriers:
- •Females 18-60 years of age at time of enrollment
- •Genetically verified or obligate hemophilia A carrier (mother of 2 boys with hemophilia A, daughter of a father with hemophilia A or mother of a son and another male relative with hemophilia A)
- •To stratify patients by carriage of mutation type 10 hemophilia carriers of mild mutations that are predicted to lead to reduced FVIII secretion, protein stability or thrombin cleavage site interference and 10 hemophilia carriers of severe mutations that lead to predicted negative cross reactive material will be selected. Predicted FVIII function of the mutation will be verified by EAHAD (European Association for Haemophilia and Allied Disorders) Coagulant Factor Variant Database at www.eahad-db.org)
- •Weight >40kg to ensure volumes of blood to be drawn are within accepted safe range
- •Inclusion criteria for non-hemophilia A carriers (Females with mild qualitative platelet dysfunction):
- •Females 18-60 years of age at time of enrollment
- •Whole blood or platelet rich plasma lumiaggregometry consistent with reduced aggregation to at least 1 agonist on at least one occasion (excluding evidence of Glanzmanns Thrombasthenia or Bernard Soulier Syndrome) or determined by primary hematologist as having a qualitative platelet disorder
- •Age-matched by 10 years to carrier enrolled
- •Weight >40kg to ensure volumes of blood to be drawn are within accepted safe range
排除标准
- •Personal history of concomitant bleeding or clotting disorder
- •Cardiac condition that requires the daily use of Aspirin or Clopidogrel
- •Inability to comply with fluid restriction protocol for 24 hours following Desmopressin (DDAVP)
- •Personal history of a myocardial infarction, renal or hepatic insufficiency or epilepsy
研究组 & 干预措施
Hemophilia A carriers with mild mutation
Hemophilia A carriers with a mild type mutation will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).
干预措施: Desmopressin (Drug)
Hemophilia A Carriers with severe mutation
Hemophilia A carriers with a severe type mutation will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).
干预措施: Desmopressin (Drug)
Control
Subjects with a mild qualitative platelet dysfunction will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).
干预措施: Desmopressin (Drug)
结局指标
主要结局
Percentage of subjects that achieve and sustain >50% increase in Factor VIII antigen levels
时间窗: 240 minutes
After administration of intravenous Desmopressin (DDAVP) at 0.3mcg/kg, the percentage of subjects that achieve and sustain Factor VIII antigen (FVIII:C) levels \>50% at 240 minutes as compared to baseline will be recorded. The levels of Factor VIII antigen (FVIII:C) will be measured using a one-stage assay. The laboratory response between carriers and the control group will be compared and the percentage of subjects that have greater than a 2-fold response from baseline and sustainment of Factor VIII antigen (FVIII:C) \>50% at 240 minutes will be recorded. A lower percent of hemophilia A carriers who maintain levels of Factor VIII antigen (FVIII:C) \>50% at 240 minutes indicates that the laboratory response and sustainment of Factor VIII antigen (FVIII:C) in response to Desmopressin (DDAVP) in adult hemophilia A carriers is reduced as compared to the control group.
次要结局
- Change in the time-course response of von Willebrand factor antigen (vWF:Ag) levels(Baseline, 240 minutes)
- Mean FVIII:C/vWF:Ag ratio in subjects with the baseline FVIII:C/vWF:Ag ratio of >1(240 minutes)
- Change in the time-course response of Factor VIII antigen levels(Baseline, 240 minutes)
- Mean FVIII:C/vWF:Ag ratio in subjects with the baseline FVIII:C/vWF:Ag ratio of <1(240 minutes)
- Mean FVIII:C/vWF:Ag ratio in subjects with the baseline FVIII:C/vWF:Ag ratio of 1(240 minutes)
研究者
Robert Sidonio
Assistant Professor
Emory University