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

January 4, 2024 updated by: Bar-Chama, Natan, M.D.

The Assessment of Fertility in Men With Spinal Muscular Atrophy (SMA)

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.

Study Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

75

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

N/A

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Semen Volume
Time Frame: 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
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
Time Frame: 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
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
Time Frame: 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
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
Time Frame: 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
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
Time Frame: At intial 3 month study enrollment
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Male Reproductive Hormones - Total Testosterone Level
Time Frame: At intial 3 month study enrollment
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
Time Frame: At intial 3 month study enrollment
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
Time Frame: At intial 3 month study enrollment
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
Time Frame: At intial 3 month study enrollment
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
Time Frame: At intial 3 month study enrollment
Serum Estradiol level will be obtained where normal values are < 39 pg/mL
At intial 3 month study enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Bar-Chama, Natan, M.D.

Investigators

  • Principal Investigator: Natan Bar-Chama, MD, The Mount Sinai Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

February 1, 2024

Primary Completion (Estimated)

February 1, 2026

Study Completion (Estimated)

July 1, 2026

Study Registration Dates

First Submitted

November 30, 2023

First Submitted That Met QC Criteria

January 4, 2024

First Posted (Estimated)

January 8, 2024

Study Record Updates

Last Update Posted (Estimated)

January 8, 2024

Last Update Submitted That Met QC Criteria

January 4, 2024

Last Verified

December 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ML44640

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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