Cresskill

This research aims to evaluate the fertility status of men diagnosed with Spinal Muscular Atrophy (SMA) who are not currently receiving disease-modifying treatments. The study focuses on understanding fertility through various assessments, including questionnaires about SMA diagnosis, disease burden, medical history, medication usage, and fertility perspectives. It is an observational study lasting 24 months. Participants will complete online questionnaires initially and during follow-up periods. During the first 3 months, they will provide two semen samples for analysis and undergo sperm quality testing using DNA fragmentation through home collection kits sent to a central laboratory. Additionally, participants will have a blood test to measure male reproductive hormone levels during this baseline period. Over the 24-month study duration, yearly semen analyses and questionnaires will continue. Throughout the study, participants will be involved in providing semen samples and completing regular online questionnaires about their health and fertility. Researchers will measure semen volume, sperm concentration, motility, morphology, and DNA fragmentation initially and annually. Hormone levels like testosterone, follicle-stimulating hormone, luteinizing hormone, and estradiol will be assessed at baseline. This comprehensive monitoring aims to gather detailed information about fertility over time in men with SMA.