Clinical trial NCT06194539: Assessing the Fertility Status of Men With Spinal Muscular Atrophy (SMA)
Official title: The Assessment of Fertility in Men With Spinal Muscular Atrophy (SMA)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Fertility Issues
Keywords: Men
Spinal Muscular Atrophy
Lead sponsor: Bar-Chama, Natan, M.D.
Sponsor class: OTHER
First posted: 2024-01-08
Enrollment: 75
Sex: MALE
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 75 men between the ages of 18 -50 with a diagnosis of SMA who are not on disease-modifying therapies.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Semen Volume
timeFrame: 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
measure: Sperm Concentration
timeFrame: 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
measure: Sperm Motility
timeFrame: 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
measure: Sperm Morphology
timeFrame: 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
measure: Sperm DNA Fragmentation Assay
timeFrame: At intial 3 month study enrollment
Secondary outcomes:
measure: Male Reproductive Hormones - Total Testosterone Level
timeFrame: At intial 3 month study enrollment
measure: Male Reproductive Hormones - Free Testosterone Level
timeFrame: At intial 3 month study enrollment
measure: Male Reproductive Hormones - Follicle Stimulating Hormone
timeFrame: At intial 3 month study enrollment
measure: Male Reproductive Hormones - Luteinizing Hormone
timeFrame: At intial 3 month study enrollment
measure: Male Reproductive Hormones - Estradiol
timeFrame: At intial 3 month study enrollment
Other outcomes:
Locations:
city: Cresskill
country: United States
facility: Natan Bar-Chama MD
state: New Jersey
Study officials:
affiliation: The Mount Sinai Hospital
name: Natan Bar-Chama, MD
role: PRINCIPAL_INVESTIGATOR
References: