Freezing gonadal tissue to help preserve fertility in individuals at risk for ovarian dysfunction
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
This study is testing if freezing ovarian tissue can help people with conditions like Turner Syndrome and galactosemia preserve their fertility for the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 2 Years to 35 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | chemotherapy, radiation |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT04948658 on ClinicalTrials.gov |
What this trial studies
This study aims to investigate the reasons behind premature ovarian insufficiency and fertility challenges in individuals with conditions such as Turner Syndrome and galactosemia. It will evaluate the effectiveness of gonadal tissue cryopreservation as a method for fertility preservation. Participants will undergo medical history screenings, physical exams, and blood tests, with a focus on analyzing the quality and quantity of follicles before and after tissue freezing. The study will also utilize next-generation sequencing to explore genetic differences in gonadal tissue related to these conditions.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2-21 with Turner Syndrome, galactosemia, premature ovarian insufficiency, or variations in sex characteristics.
Not a fit: Patients who do not have any of the specified conditions or are outside the age range may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could provide a viable option for fertility preservation in individuals at risk of ovarian dysfunction.
How similar studies have performed: While similar approaches have been explored, this study focuses on specific genetic conditions and may provide novel insights into fertility preservation.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Individuals with Turner Syndrome prior to menarche aged 2 years to 12 years whose families seek to store ovarian tissue for possible future use. Or Individuals with galactosemia (age 2-21) Or Adolescent females up to age 21 years old, who have undergone menarche and are subsequently diagnosed with premature ovarian insufficiency and their last menstrual period occurred within 2 years of presentation. Diagnosis of POI is based on 2 elevated FSH concentrations obtained over 1 month apart. Or Children or adolescents aged 2-24 years old who have diminished ovarian reserve based on laboratory findings or who respond poorly to ovarian stimulation for egg freezing. Or Individuals with variations in sex characteristics (or differences in sex development, DSD) including Turner syndrome with Y chromosome material who undergo prophylactic gonadectomy for clinical indications. Or 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. 2. Stated willingness to comply with all study procedures and availability for the duration of the study. 3. Ability of subject, parents, or guardian to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Individuals older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent. 2. Individuals with a pelvic mass tumor noted on pre-operative ultrasound, will undergo usual care for the underlying condition and will not undergo oophorectomy for ovarian tissue cryopreservation. 3. Individuals whose underlying medical condition significantly increases their risk of complications from anesthesia and surgery. 4. Females with POI due to chemotherapy or radiation treatment 5. Pregnancy or lactation 6. Individuals with VSC who choose to retain gonads after clinical consulting. 7. Individuals with Turner Syndrome who have an undetectable AMH based on testing laboratory reference range.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Veronica Gomez-Lobo, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Veronica Gomez-Lobo, M.D.
- Email: veronica.gomez-lobo@nih.gov
- Phone: (301) 435-7567
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.