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

NCT06194539 | Recruiting

• 1 other identifier: ML44640
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

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. 1.Complete online questionnaires that will assess SMA diagnosis and disease burden, medical and surgical history, medication usage, and fertility status and perspectives.
2. 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. 3.Over the initial study baseline period of 3 months study participants will obtain a blood test to determine male reproductive hormone levels.

Conditions

Fertility Issues

Keywords

Men; Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (5)

• 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

Secondary Outcomes (5)

• Male Reproductive Hormones - Total Testosterone Level

  At intial 3 month study enrollment

• Male Reproductive Hormones - Free Testosterone Level

  At intial 3 month study enrollment

• Male Reproductive Hormones - Follicle Stimulating Hormone

  At intial 3 month study enrollment

• Male Reproductive Hormones - Luteinizing Hormone

  At intial 3 month study enrollment

• Male Reproductive Hormones - Estradiol

  At intial 3 month study enrollment

Eligibility Criteria

• Age: 18 Years - 50 Years
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Bar-Chama, Natan, M.D.: lead

Study Sites (1)

Natan Bar-Chama MD

Cresskill, New Jersey, 07626, United States

RECRUITING

MeSH Terms

Conditions

Infertility; Multiple Endocrine Neoplasia Type 1; Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Genital Diseases; Urogenital Diseases; Multiple Endocrine Neoplasia; Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Natan Bar-Chama, MD

  The Mount Sinai Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Natan Bar-Chama, MD

CONTACT

2016941781; support@malefertilitysma.com

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 30, 2023
• First Posted: January 8, 2024
• Study Start: February 1, 2024
• Primary Completion: February 1, 2026
• Study Completion (Estimated): July 1, 2026
• Last Updated: January 8, 2024

Record last verified: 2023-12

Locations

US (1)