Assessing the Fertility Status of Men With Spinal Muscular Atrophy (SMA)

Study participants will:

• Complete online questionnaires that will assess SMA diagnosis and disease burden, medical and surgical history, medication usage, and fertility status and perspectives.
• Over the 3-month initial study baseline period participants will provide two separate ejaculates for semen analysis and a single determination of sperm quality using DNA fragmentation testing using home collection and subsequent shipment to a central laboratory.
• Over the initial study baseline period of 3 months study participants will obtain a blood test to determine male reproductive hormone levels.

During the 24-month study duration, participants will be requested to undergo a yearly semen analysis and complete online relevant questionnaires.

Inclusion criteria

• Signed Informed Consent Form (or assent)
• Male and age greater than 18 years and less than 50 years of age with a confirmed diagnosis of SMA at the time of signing the Informed Consent Form (or assent)
• Currently not on a disease-modifying agent or therapy for SMA
• Adequately recovered from any acute illness at the time of screening, and considered clinically well enough to participate in the study.

Exclusion criteria

Men with a prior history of chemotherapy, radiation therapy, prostate or testicular cancer, undescended testicles and use of anabolic steroids or testosterone usage will be excluded