MedPath

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

Recruiting
Conditions
Fertility Issues
Registration Number
NCT06194539
Lead Sponsor
Bar-Chama, Natan, M.D.
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.

Recruitment & Eligibility

Status
RECRUITING
Sex
Male
Target Recruitment
75
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Semen VolumeTwo 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 ConcentrationTwo 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 MotilityTwo 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 DNA Fragmentation AssayAt intial 3 month study enrollment

Home collected semen ejaculates will be obtained to measure sperm DNA fragmentation rate ( normal \< 30% DNA fragmented sperm)

Sperm MorphologyTwo 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 Outcome Measures
NameTimeMethod
Male Reproductive Hormones - Total Testosterone LevelAt 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 LevelAt 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 HormoneAt 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 HormoneAt 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 - EstradiolAt intial 3 month study enrollment

Serum Estradiol level will be obtained where normal values are \< 39 pg/mL

Trial Locations

Locations (1)

Natan Bar-Chama MD

🇺🇸

Cresskill, New Jersey, United States

© Copyright 2025. All Rights Reserved by MedPath