Center for Maternal-Fetal Precision Medicine, University of California San Francisco, San Francisco, California, USA.
Department of Surgery, University of California San Francisco, San Francisco, California, USA.
Prenat Diagn. 2022 Oct;42(11):1409-1419. doi: 10.1002/pd.6228. Epub 2022 Sep 3.
In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.
A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.
Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31, p < 0.05). Older parental age and believing there had been excessive delay in diagnosis were associated with an interest in enrolling in a fetal ASO trial (OR 1.04, 7.38, respectively, p < 0.05).
In utero therapies are promising for severe genetic diseases. Patients with SMA and their parents view prenatal testing and therapies positively, with gene therapy being favored.
子宫内 SMA 治疗可以改善生存和神经结局。我们研究了 SMA 患者和家长对产前诊断、胎儿治疗和临床试验的态度。
一个多学科团队设计了一份问卷，Cure SMA 通过电子邮件分发给 SMA 患者（年龄>18 岁）及其家长。采用多变量有序逻辑回归分析受访者特征与态度之间的关联。
在 114 名受访者中（60%为患者），仅有 2 人进行了产前诊断。然而，91%的人支持产前检测，81%的人认为自己的诊断存在延迟。总体而言，55%的人会参加胎儿反义寡核苷酸（ASO）一期试验，而 79%的人会选择已确立的胎儿 ASO/小分子治疗方法。总体而言，61%的人会参加胎儿基因治疗试验，87%的人会选择胎儿基因治疗。与父母为孩子报名相比，患者参加胎儿基因治疗试验的可能性更小（OR 0.31，p<0.05）。父母年龄较大和认为诊断延迟过长与参加胎儿 ASO 试验的意愿有关（OR 分别为 1.04 和 7.38，p<0.05）。
子宫内治疗对于严重的遗传疾病具有广阔的前景。SMA 患者及其家长对产前检测和治疗持积极态度，基因治疗更受欢迎。
