沃索利肽对软骨发育不全儿童具有持续的生长促进作用，同时还能改善与健康相关的生活质量的身体和社会方面。

IF 6.6 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2024-09-18 DOI:10.1016/j.gim.2024.101274

Ravi Savarirayan , Melita Irving , William R. Wilcox , Carlos A. Bacino , Julie E. Hoover-Fong , Paul Harmatz , Lynda E. Polgreen , Klaus Mohnike , Carlos E. Prada , Takuo Kubota , Paul Arundel , Antonio Leiva-Gea , Richard Rowell , Andrea Low , Ian Sabir , Alice Huntsman-Labed , Jonathan Day

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引用次数: 0

摘要

目的：评估伏索利特对软骨发育不全儿童健康相关生活质量的影响：参与者在参加安慰剂对照试验（NCT03197766）后，在一项扩展试验（NCT03424018）中接受伏索利特（15 μg/kg/天）：共有 119 名参与者（平均 [SD] 年龄为 9.7 [2.6] 岁）。平均治疗时间为 4 (0.78) 年。第 3 年时，QoLISSY 体力评分（5.99 [19.41]，护理人员报告；6.32 [20.15]，自我报告）和社交评分（分别为 2.85 [8.29] 和 6.76 (22.64)）的平均（标清）变化最大。身高 Z 值增长≥1 SD 的参与者的变化最大（体能：11.36 [19.51]，护理人员报告[n=38]；8.48 [21.83]，自我报告[n=28]）（社交：分别为 5.84 [15.45] 和 9.79 [22.80]）。为了确定未接受治疗者的领域得分会如何随年龄变化，我们使用观察/未接受治疗者的数据制作了模型。年龄每增加 1 岁，护理人员报告的身体和社交领域得分分别会发生 0.16 (SE, 0.55) 和 0.16 (0.50) 的变化。自我报告的分数分别变化了 1.45 (0.71) 和 1.92 (0.77)：这些数据表明，经过3年的治疗，沃索利肽对软骨发育不全儿童的身体和社会功能有积极影响，尤其是对身高Z-score变化更明显的儿童。

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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life

Purpose

: Evaluate the impact of vosoritide on health-related quality of life in children with achondroplasia.

Methods

Participants received vosoritide (15 μg/kg/day) in an extension trial (NCT03424018) after having participated in a placebo-controlled trial (NCT03197766).

Results

The population comprised 119 participants (mean [SD] age 9.7 [2.6] years). Mean treatment duration was 4 (0.78) years. At year 3, the largest mean (SD) changes were observed in the Quality of Life of Short Stature Youth physical score (5.99 [19.41], caregiver reported; 6.32 [20.15], self-reported) and social score (2.85 [8.29] and 6.76 [22.64], respectively). Changes were greatest in participants with ≥1 SD increase in height z-score (physical: 11.36 [19.51], caregiver-reported [n = 38]; 8.48 [21.83], self-reported [n = 28]) (social: 5.84 [15.45] and 9.79 [22.80], respectively). To determine how domain scores may change with age in untreated persons, models were produced using observational/untreated-person data. A 1-year increase in age was associated with a change of 0.16 (SE, 0.55) and 0.16 (0.50), for caregiver-reported physical and social domain scores, respectively. Self-reported scores changed by 1.45 (0.71) and 1.92 (0.77), respectively.

Conclusion

These data suggest that after 3 years of treatment, vosoritide demonstrates a positive effect on physical and social functioning among children with achondroplasia, particularly in children with a more pronounced change in height z-score.

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.