Diagnosis and treatment for spinal muscular atrophy (SMA) may be initiated in utero, an approach supported by most patients, according to an observational study.

Of all survey respondents, who included patients with SMA or the parents of individuals with SMA, only 2% received a prenatal diagnosis, while 81% thought their diagnosis was delayed. Nearly all (91%) agreed with prenatal diagnostic tests, and those affected by more severe SMA presentations had the highest rate of support for this strategy, reported Tippi MacKenzie, MD, of the University of California in San Francisco, and colleagues.

The vast majority would consent to initiate treatment in utero, with antisense oligonucleotide and gene therapy in 79% and 87% of the cases, respectively, they found.

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“These survey results will guide discussions with FDA and other partners as we explore the feasibility of a phase 1 clinical trial for in utero therapies for SMA,” the study authors said.

The results were recently published in the journal Prenatal Diagnosis.

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The researchers set out to assess the opinions of patients with SMA and their parents regarding in utero diagnosis, treatment, and research.

This observational study included 114 participants, of whom 60% were patients previously diagnosed with SMA or parents of patients with this diagnosis.

Participants were asked to complete an electronically administered survey, which was created by a multidisciplinary team. The researchers then used the questionnaire results to evaluate relationships between attitudes and respondent attributes using multivariable ordinal logistic regression.

Notably, even supporting in utero therapies, the number of patients that would participate in clinical trials considerably decreased, although they still represented the majority. For example, 61% would enroll in gene therapy research, and 55% in phase 1 studies for antisense oligonucleotide.

“There is a lot of ethical complexity in early phase trials for severe pediatric diseases, such as the limited treatment options, uncertain risks and benefits, and the fact that patient communities are often highly motivated to shape and/or fund experimental research,” the authors noted.

Other data showed that parents were more likely to enroll their children in a clinical trial than patients would enroll themselves. Coherently, the belief that a delayed diagnosis occurred with their children was associated with parental acceptance to participate in a study for in utero antisense oligonucleotide treatment with an odds ratio of 7.38. Older age also positively correlated with parents’ interest in enrolling in such trials as indicated by an odds ratio of 1.04.


Schwab M, Shao S, Zhang L, et al. Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy. Prenat Diagn. Published online August 27, 2022. doi:10.1002/pd.6228