Introduction

Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to quantify the value of new treatments, and these analyses require health state utilities. Therefore, the purpose of this study was to estimate utilities associated with varying levels of severity of adult and pediatric ASMD type B.

Methods

Seven adult and seven child health state vignettes describing ASMD were developed based on published literature, clinical trial results, and interviews with clinicians, patients with ASMD, and parents of children with ASMD. The health states were valued in time trade-off interviews with adult general population respondents in the UK.

Results

Interviews were completed with 202 participants (50.0% female; mean age = 41.3 years). The health state representing ASMD without impairment had the highest mean utility for both the adult and child health states (0.92/0.94), and severe ASMD had the lowest mean utility (0.33/0.45). Every child health state had a significantly greater utility than the corresponding adult health state. Differences between adult/child paired states ranged from 0.02 to 0.13. Subgroup analyses explored the impact of parenting status on valuation of child health states.

Discussion

Greater severity of ASMD was associated with lower mean utility. Results have implications for valuation of pediatric health states. The resulting utilities may be useful in cost-utility modeling estimating the value of treatment for ASMD.

中文翻译：

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评估与成人和儿童酸性鞘磷脂酶缺乏症 (ASMD) 相关的健康状况效用

介绍

B 型酸性鞘磷脂酶缺乏症 (ASMD) 是一种罕见的遗传性疾病，会导致脾脏和肝脏肿大、肺功能障碍和其他症状。通常进行成本效用分析来量化新疗法的价值，而这些分析需要健康状态效用。因此，本研究的目的是评估与成人和儿童 B 型 ASMD 不同严重程度相关的效用。

方法

根据已发表的文献、临床试验结果以及对临床医生、ASMD 患者和 ASMD 儿童家长的采访，制定了描述 ASMD 的 7 个成人和 7 个儿童健康状况简介。在对英国成年普通人群受访者进行时间权衡访谈时，对健康状况进行了评估。

结果

共有 202 名参与者（50.0% 为女性；平均年龄 = 41.3 岁）完成了访谈。代表无损伤的 ASMD 的健康状态对于成人和儿童健康状态的平均效用最高（0.92/0.94），而严重的 ASMD 的平均效用最低（0.33/0.45）。每个儿童健康状态的效用都明显大于相应的成人健康状态。成人/儿童配对状态之间的差异范围为 0.02 至 0.13。亚组分析探讨了养育状况对儿童健康状况评估的影响。

讨论

ASMD 的严重程度越高，平均效用越低。结果对儿科健康状况的评估具有影响。由此产生的效用可能有助于成本效用模型评估 ASMD 的治疗价值。