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This study will aim to assess the fertility status of men with Spinal Muscular Atrophy (SMA) not on disease-modifying therapies.
Participants will:
During the 24-month study duration, participants will be requested to undergo a yearly semen analysis and complete online relevant questionnaires.
Study participants will:
During the 24-month study duration, participants will be requested to undergo a yearly semen analysis and complete online relevant questionnaires.
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| Measure | Description | Time Frame |
|---|---|---|
| Semen Volume | Home collected semen ejaculates will be obtained to measure semen volume (normal > 1.5ml) | 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) | 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) | 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) | 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) | At intial 3 month study enrollment |
| Measure | Description | Time Frame |
|---|---|---|
| Male Reproductive Hormones - Total Testosterone Level | Serum total testosterone level will be obtained where normal values are 250 -1100 ng/dL | At intial 3 month study enrollment |
| Male Reproductive Hormones - Free Testosterone Level |
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Inclusion Criteria:
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
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75 men between the ages of 18 -50 with a diagnosis of SMA who are not on disease-modifying therapies.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Natan Bar-Chama, MD | Contact | 2016941781 | support@malefertilitysma.com |
| Name | Affiliation | Role |
|---|---|---|
| Natan Bar-Chama, MD | The Mount Sinai Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Natan Bar-Chama MD | Recruiting | Cresskill | New Jersey | 07626 | United States |
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| ID | Term |
|---|---|
| D007246 | Infertility |
| D018761 | Multiple Endocrine Neoplasia Type 1 |
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D000091662 | Genital Diseases |
| D000091642 | Urogenital Diseases |
| D009377 | Multiple Endocrine Neoplasia |
| D004701 | Endocrine Gland Neoplasms |
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Serum free testosterone level will be obtained where normal values are 46.0 - 224.0 pg/mL
| 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 | 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 | At intial 3 month study enrollment |
| Male Reproductive Hormones - Estradiol | Serum Estradiol level will be obtained where normal values are < 39 pg/mL | At intial 3 month study enrollment |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D009378 | Neoplasms, Multiple Primary |
| D009386 | Neoplastic Syndromes, Hereditary |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D004700 | Endocrine System Diseases |
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |