The Assessment of Fertility in Men With Spinal Muscular Atrophy (SMA)
Summary
This study will aim to assess the fertility status of men with Spinal Muscular Atrophy (SMA) not on disease-modifying therapies. Participants will: 1. Complete online questionnaires that will assess SMA diagnosis and disease burden, medical and surgical history, medication usage, and fertility status and perspectives. 2. 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. 3. 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.
Detailed description
Study participants will: 1. Complete online questionnaires that will assess SMA diagnosis and disease burden, medical and surgical history, medication usage, and fertility status and perspectives. 2. 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. 3. 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.
Outcome measures
Primary
Semen Volume
Home collected semen ejaculates will be obtained to measure semen volume (normal \> 1.5ml)
Time frame: Two semen samples will be obtained at the initial 3 month study enrollment and then annually for the duration of the study period of 24 months
Sperm Concentration
Home collected semen ejaculates will be obtained to measure sperm concentration ( normal \> 15 million sperm/ml)
Time frame: Two semen samples will be obtained at the initial 3 month study enrollment and then annually for the duration of the study period of 24 months
Sperm Motility
Home collected semen ejaculates will be obtained to measure sperm motility ( normal \> 39% motile sperm)
Time frame: Two semen samples will be obtained at the initial 3 month study enrollment and then annually for the duration of the study period of 24 months
Sperm Morphology
Home collected semen ejaculates will be obtained to measure sperm morphology (normal \> 4% normal sperm morphology)
Time frame: Two semen samples will be obtained at the initial 3 month study enrollment and then annually for the duration of the study period of 24 months
Sperm DNA Fragmentation Assay
Home collected semen ejaculates will be obtained to measure sperm DNA fragmentation rate ( normal \< 30% DNA fragmented sperm)
Time frame: At intial 3 month study enrollment
Secondary
Male Reproductive Hormones - Total Testosterone Level
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Free Testosterone Level
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Follicle Stimulating Hormone
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Luteinizing Hormone
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Estradiol
Time frame: At intial 3 month study enrollment
Eligibility criteria
Study locations (1)
Natan Bar-Chama MD
Cresskill, New Jersey, 07626