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Published on: May 11, 2018
Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy
Marisa E Schwab1,2, Shirley Shao3, Li Zhang4
1Center for Maternal-Fetal Precision Medicine, University of California San Francisco, San Francisco, California, USA.
Insights
Patients and parents with spinal muscular atrophy (SMA) support prenatal diagnosis and in utero therapies, especially gene therapy. Many would enroll in clinical trials for fetal treatments, favoring established therapies over experimental ones.
Area of Science:
- Neurology
- Genetics
- Medical Ethics
Background:
- Spinal muscular atrophy (SMA) is a severe genetic disorder.
- In utero treatments offer potential for improved survival and neurological outcomes in SMA.
- Patient and parent perspectives are crucial for advancing fetal therapies.
Purpose of the Study:
- To investigate attitudes of patients and parents affected by SMA towards prenatal diagnosis.
- To assess patient and parent views on fetal therapies and clinical trials for SMA.
- To understand preferences regarding different types of in utero SMA treatments.
Main Methods:
- A multidisciplinary team designed a questionnaire.
- Cure SMA electronically distributed the questionnaire to SMA patients and parents.
- Multivariable ordinal logistic regression analyzed respondent characteristics and attitudes.
Main Results:
- 91% of respondents supported prenatal testing, with 81% reporting diagnostic delays.
- 55% would enroll in a fetal antisense oligonucleotide (ASO) trial, while 79% preferred established ASO/small molecule therapy.
- 61% would enroll in fetal gene therapy trials, with 87% preferring established gene therapies; patients were less likely to enroll in gene therapy trials than parents.
Conclusions:
- In utero therapies show promise for severe genetic diseases like SMA.
- Patients and parents with SMA hold positive views on prenatal testing and in utero therapies.
- Gene therapy is the favored approach among potential in utero treatments for SMA.
Objective:
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.
Methods:
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.
Results:
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).
Conclusion:
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.
