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.
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.
Study Type
OBSERVATIONAL
Enrollment
75
Natan Bar-Chama MD
Cresskill, New Jersey, United States
RECRUITINGSemen 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
Male Reproductive Hormones - Total Testosterone Level
Serum total testosterone level will be obtained where normal values are 250 -1100 ng/dL
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Free Testosterone Level
Serum free testosterone level will be obtained where normal values are 46.0 - 224.0 pg/mL
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Follicle Stimulating Hormone
Serum FSH ( Follicle StimulatingHormone) level will be obtained where normal values are 1.6 -8.0 mIU/mL
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Luteinizing Hormone
Serum LH ( Luteinizing Hormone) level will be obtained where normal values are 1.5- 9.3 mIU/mL
Time frame: At intial 3 month study enrollment
Male Reproductive Hormones - Estradiol
Serum Estradiol level will be obtained where normal values are \< 39 pg/mL
Time frame: At intial 3 month study enrollment
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