Shelley Coskery, Marcus Erdler, Margaret R. Frey, Michael A. Lopez
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Abstract
Introduction
Spinal muscular atrophy (SMA) is a genetic, progressive neuromuscular disease caused by pathogenic variants in the survival of motor neuron survival of motor neuron (SMN) 1 gene leading to a deficiency in SMN protein. Three disease-modifying therapies are available for the treatment of SMA, affording many with the opportunity for family planning. Fertility outcomes in patients with SMA treated with risdiplam have not been previously reported.
Methods
This study was a multicenter, non-interventional retrospective case review that included three adult male patients with SMA from three sites in Austria and the USA. The primary objective was to characterize the reproductive history and fertility journey of men with SMA who were exposed to risdiplam and whose partner had conceived.
Results
Three male patients aged 21–34 years with late-onset SMA were taking risdiplam during the window of conception. Of the three resultant pregnancies, two were full term and resulted in healthy babies and one was voluntarily terminated. The babies were healthy and developing normally.
Conclusions
This series presents three cases of successful conception while a male patient was receiving risdiplam, a US Food and Drug Administration–approved treatment for SMA. Although there were reproductive concerns due to impairment in spermatogenesis that arose during nonclinical studies, this case series demonstrates that there was sufficient sperm production while on risdiplam to result in pregnancy. More research is needed to provide a complete understanding of the effects of risdiplam on male fertility in humans.
期刊介绍：
Advances in Therapy is an international, peer reviewed, rapid-publication (peer review in 2 weeks, published 3–4 weeks from acceptance) journal dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of therapeutics and interventions (including devices) across all therapeutic areas. Studies relating to diagnostics and diagnosis, pharmacoeconomics, public health, epidemiology, quality of life, and patient care, management, and education are also encouraged.
The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, communications and letters. The journal is read by a global audience and receives submissions from all over the world. Advances in Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of all scientifically and ethically sound research.
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