Background: The fertility status of men affected with Spinal Muscular Atrophy (SMA) is relatively unknown. Due to currently available therapeutics, as well as promising emerging advances, there has been a dramatic improvement in overall disease prognosis and prospects regarding parenthood. To date, there are no known data sets that establish the fertility status of men with SMA. This unmet need will be explored in this study by describing this population’s fertility status and determining the incidence and degree of male factor infertility.
Objectives: This study will describe and assess the fertility status of men with Spinal Muscular Atrophy (SMA) who are not on a disease-modifying therapy. This study will take advantage of new technologies that enable home-collected semen samples to be reliably preserved during transport to designated andrology facilities for testing and cryopreservation. The evolution of male fertility telehealth platforms and reliable home semen collection technologies will enable this study to be conducted in the home environment. These consequential developments are uniquely applicable to men with SMA where mobility and access to fertility care are important considerations.
Results: The male fertility evaluation will be achieved by obtaining two baseline semen analyses, a serum reproductive hormonal profile, and a sperm DNA fragmentation assay. SMA disease status for those enrolled will be established by obtaining a medical history and participant’s perception of SMA disease burden utilizing the validated SMA – HI questionnaire. To assess changes of fertility status over time study participants will be eligible to undergo an additional semen analysis every 12 months for the duration of the 2-year study period. Furthermore, all study participants will be offered a single opportunity to preserve their future fertility through home-collected sperm cryopreservation.
Conclusions: This is a prospective descriptive study to determine the fertility status of men with Spinal Muscular Atrophy (SMA) who are not on a DMT. The study will provide men with SMA diagnostic fertility testing using home-collected semen analysis and a reproductive hormonal profile. This investigation will aim to identify unmet needs and gaps in knowledge regarding the fertility status and family-building goals of men with SMA.