Clinical Coagulation Research, Department of Translational Medicine, Lund University, Malmö, Sweden.
Rho, Inc., Durham, North Carolina, USA.
Haemophilia. 2022 May;28(3):453-461. doi: 10.1111/hae.14525. Epub 2022 Mar 8.
The B-Natural study is a multicentre, multinational, observational study of haemophilia B (HB) designed to increase understanding of clinical manifestations, treatment and quality of life (QoL).
To characterise and compare QoL in HB across disease severity groups and individuals with inhibitors to identify gaps in treatment.
A total of 224 individuals from 107 families were enrolled from a total of 24 centres in North America (n = 16), Europe (n = 7) and Asia (n = 1). Of these, 68 (30.4%) subjects had severe (<1 IU/dL), median age 15.6 years, 114 (50.9%) moderate (1-5 IU/dL), age 13.3 years, and 42 (18.8%) mild (>5-< 40 IU/dL), age 12.1 years, disease. Twenty-nine participants had inhibitors or a history of inhibitors. Three versions of the EQ-5D instrument were used as a measure of QoL: proxy (ages 4-7), youth (ages 8-15) and self (age 16+). Each instrument included a visual analogue scale ranging from 100 (best health) to 0 (worst health) to assess current day's health (EQ VAS). Range-of-motion (ROM) for elbows, knees and ankles was assessed using a four-point scale, from which a composite score was calculated.
In all severity groups, a proportion of subjects showed less than optimal QoL. The majority of the mild and moderate severe participants reported a normal EQ-5D health profile (79% and 72%, respectively), whereas about half (47%) of the severe participants and only 13% of the inhibitor participants reported this profile.
The B-Natural study reveals impacted QoL in all disease severities of HB including those with inhibitors. Unmet needs remain and include nonsevere HB.
B-Natural 研究是一项多中心、多国的血友病 B（HB）观察性研究，旨在提高对临床表现、治疗和生活质量（QoL）的认识。
在不同疾病严重程度组和有抑制剂的个体中描述和比较 HB 的 QoL，以确定治疗中的差距。
共从北美（n=16）、欧洲（n=7）和亚洲（n=1）的 24 个中心招募了 107 个家庭的 224 名个体，其中 68 名（30.4%）受试者为重度（<1IU/dL），中位年龄为 15.6 岁，114 名（50.9%）中度（1-5IU/dL），年龄 13.3 岁，42 名（18.8%）轻度（>5-<40IU/dL），年龄 12.1 岁。29 名参与者有抑制剂或抑制剂病史。EQ-5D 仪器的三个版本用于衡量 QoL：代理（4-7 岁）、青年（8-15 岁）和自我（16+岁）。每个仪器都包括一个从 100（最佳健康）到 0（最差健康）的视觉模拟量表，以评估当天的健康状况（EQ VAS）。使用四点量表评估肘部、膝盖和脚踝的活动范围（ROM），并计算出综合评分。
在所有严重程度组中，都有一部分患者的 QoL 低于理想水平。大多数轻度和中度严重患者报告 EQ-5D 健康状况正常（分别为 79%和 72%），而大约一半（47%）的重度患者和只有 13%的抑制剂患者报告了这种情况。
B-Natural 研究揭示了 HB 的所有疾病严重程度，包括有抑制剂的患者，都存在受影响的 QoL。仍然存在未满足的需求，包括非严重的 HB。
