Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction and Premature Ovarian Insufficiency
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|ClinicalTrials.gov Identifier: NCT04948658|
Recruitment Status : Recruiting
First Posted : July 2, 2021
Last Update Posted : August 2, 2022
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 ovarian tissue allows for fertility preservation.
To find out why females with certain conditions have can have premature ovarian insufficiency (POI or early menopause) and trouble getting pregnant and if freezing the tissue from their ovary will help them have their own child in the future.
Females aged 4-12 who have Turner Syndrome or galactosemia. Also, females aged 13 21 with premature ovarian insufficiency.
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 will have surgery to remove an ovary. 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 ovary (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.
|Condition or disease|
|Ovarian Disfunction Post-menarcheal Adolescents Turner Syndrome Galactosemia|
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction and Premature Ovarian Insufficiency|
|Actual Study Start Date :||September 13, 2021|
|Estimated Primary Completion Date :||July 31, 2030|
|Estimated Study Completion Date :||July 31, 2030|
Adolescents with DOR
Adolescents who have diminished ovarian reserve who respond poorly to ovarian stimulation for egg freezing
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.
Turner Syndrome and galactosemia
Individuals with Turner Syndrome and galactosemia prior to menarche aged 4 years to 12 years who have not demonstrated signs of premature ovarian insufficiency (one FSH>25 IU/L)
Turner Syndrome with Y material
Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy.
- Single cell/nucleus RNA sequencing [ Time Frame: before and after cryopreservation ]Single cell/nucleus RNA sequencing on fresh compared to frozen and thawed tissue. This will assess what transcription changed occur due to the freezing process.
- Tissue for research [ Time Frame: before and after cryopreservation ]initial evaluation of number and quality of follicles before and after cryopreservation
- Correlation of follicle density and quality with markers such as age, AMH, condition. [ Time Frame: before and after cryopreservation ]Correlation of follicle density and quality with markers such as age, AMH, condition.
- density and quality of follicles in the ovaries [ Time Frame: before and after cryopreservation ]Evaluation of density and quality of follicles in the ovaries of girls with Turner syndrome, galactosemia and post-menarcheal adolescent with premature ovarian insufficiency before and after cryopreservation and thawing
- Compare hormone levels [ Time Frame: before and after cryopreservation ]Comparison of hormone levels such as AMH, FSH, LH, and Estradiol between patients and controls.
- Evaluate changes in single cell/nucleus RNA sequencing [ Time Frame: before and after cryopreservation ]Evaluate changes in single cell/nucleus RNA sequencing in tissue before and after treatment with primordial follicle inhibitors and activators.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04948658
|Contact: Veronica Gomez-Lobo, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Veronica Gomez-Lobo, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|