Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study ID
NCT04948658
Status
Recruiting
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Conditions

  • Differences in Sex Development
  • Galactosemia
  • Ovarian Disfunction
  • Post-menarcheal Adolescents
  • Turner Syndrome
  • Variations in Sex Characteristics

Eligibility Criteria

Sex
ALL
Age
2 Years - 35 Years
Healthy Volunteers
Not accepted

Study Details

Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation. Objective: To find out why people with certain conditions have can have premature ovarian insufficiency (POI or early menopause) and individuals with variations in sex characteristics have trouble getting pregnant and if freezing the gonads tissue from them will help to have their own child in the future. Eligibility: Individuals aged 2-21 who have Turner Syndrome or galactosemia. Also, females aged 13-21 with premature ovarian insufficiency, individuals with variations in sex characteristics, and individuals 2-35 receiving high-risk gonadotoxic therapy Design: Participants will be screened with a medical history. Participants may have a physical exam and blood tests. Their body measurements may be taken. These include weight, height, arm span, skin fold, and sitting height. They may fill out surveys about their quality of life, body image, and health. Participants may have a transabdominal pelvic ultrasound. A probe will be placed on their belly and will take pictures of the organs in the pelvis. They may have a transvaginal pelvic ultrasound performed while asleep in the operating room if needed. Participants may have surgery to remove an gonads and skin biopsy. The removed tissue will be frozen and stored. The tissue will have to be stored for many years. NIH will pay to store the tissue for 1 year. After that, participants will have to pay for storage. A piece of the gonads (no more than 20%) will be used for research Travel, lodging and meals for participants traveling greater than 50 miles will be reimbursed based off the government rate. Local participants will not be reimbursed. Participants will have a checkup 6 weeks after surgery one or more follow-up visits 6-18 months after surgery. They may have phone follow-up every 12-24 months after surgery. Participation will last 30 years.

Key Dates

Start date
Sep 13, 2021
Status verified
Apr 2026
Primary completion
Jul 31, 2030
Completion
Jul 31, 2030

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: Adolescents with DOR
    Adolescents with diminished ovarian reserve (DOR) who respond poorly to ovarian stimulation for egg freezing.
  • Arm: Adolescents with POI
    Adolescent females up to age 21 years old, who have undergone menarche and are subsequently diagnosed with POI and their last menstrual period occurred within 2 years of presentation.
  • Arm: Individuals receiving high-risk gonadotoxic therapy
    Individuals (2-35 years) receiving high-risk gonadotoxic therapy at the NIH Clinical Center who are at high risk for developing premature ovarian insufficiency and infertility.
  • Arm: Individuals with variations in sex characteristics (or differences in sex development, DSD)
    Individuals with variations in sex characteristics (or differences in sex development, DSD) who undergo gonadectomy for clinical indications.
  • Arm: Turner Syndrome and galactosemia
    Individuals with Turner Syndrome prior to menarche aged 2 years to 12 years, who have not previously demonstrated signs of premature ovarian insufficiency (FSH\>25 IU/L).
  • Arm: Turner Syndrome with Y material
    Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy.

Primary Outcome Measure

Single cell/nucleus RNA sequencing [ Time Frame: before and after cryopreservation ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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