Fertility Issues
Conditions
Keywords
Men, Spinal Muscular Atrophy
Brief 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.
Interventions
None listed
Sponsors
Bar-Chama, Natan, M.D.
Study design
Observational model
ECOLOGIC_OR_COMMUNITY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
18 Years to 50 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sperm DNA Fragmentation Assay | At intial 3 month study enrollment | Home collected semen ejaculates will be obtained to measure sperm DNA fragmentation rate ( normal \< 30% DNA fragmented sperm) |
| Semen Volume | 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 | Home collected semen ejaculates will be obtained to measure semen volume (normal \> 1.5ml) |
| Sperm Concentration | 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 | Home collected semen ejaculates will be obtained to measure sperm concentration ( normal \> 15 million sperm/ml) |
| Sperm Motility | 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 | Home collected semen ejaculates will be obtained to measure sperm motility ( normal \> 39% motile sperm) |
| Sperm Morphology | 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 | Home collected semen ejaculates will be obtained to measure sperm morphology (normal \> 4% normal sperm morphology) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Male Reproductive Hormones - Total Testosterone Level | At intial 3 month study enrollment | Serum total testosterone level will be obtained where normal values are 250 -1100 ng/dL |
| Male Reproductive Hormones - Free Testosterone Level | At intial 3 month study enrollment | Serum free testosterone level will be obtained where normal values are 46.0 - 224.0 pg/mL |
| Male Reproductive Hormones - Follicle Stimulating Hormone | At intial 3 month study enrollment | Serum FSH ( Follicle StimulatingHormone) level will be obtained where normal values are 1.6 -8.0 mIU/mL |
| Male Reproductive Hormones - Luteinizing Hormone | At intial 3 month study enrollment | Serum LH ( Luteinizing Hormone) level will be obtained where normal values are 1.5- 9.3 mIU/mL |
| Male Reproductive Hormones - Estradiol | At intial 3 month study enrollment | Serum Estradiol level will be obtained where normal values are \< 39 pg/mL |
Countries
United States
Contacts
Primary ContactNatan Bar-Chama, MD
Outcome results
None listed