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

Bar-Chama, Natan, M.D.

Status: Enrolling

Conditions: Fertility Issues

Study type: Observational

Funder types: Other

Identifiers

NCT06194539

ML44640

Details and patient eligibility

About

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.

Full 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.

Enrollment: 75 estimated patients

Sex: Male

Ages: 18 to 50 years old

Volunteers: No Healthy Volunteers

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