Freezing gonadal tissue to help preserve fertility in individuals at risk for ovarian dysfunction

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Inpegsomatropin vs Givopegsomatropin for short stature in girls with Turner syndrome

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• Gonadal function and pubertal development in girls with classic galactosemia

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• Parental plans and pregnancy outcomes in 93 women with Turner syndrome

  This project describes parental plans and pregnancy outcomes for adult women with Turner syndrome treated at Strasbourg University Hospitals between 2009 and 2019.

  Recruiting University Hospital, Strasbourg, France · Strasbourg · NCT07344012

• Once-weekly lonapegsomatropin versus daily somatropin for children and adolescents with short stature due to growth-hormone-sufficient conditions

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  Recruiting at 56 sites Phase 3 Ascendis Pharma A/S · Phoenix, Arizona and 55 other locations · NCT07221851

• Bleeding patterns with sequential versus continuous progesterone in adolescents with Turner syndrome

  This study will test whether taking progesterone continuously or in a sequential (monthly) schedule changes bleeding patterns in adolescents with Turner syndrome who are on estrogen replacement therapy.

  Recruiting Phase 4 Children's Mercy Hospital Kansas City · Kansas City, Missouri · NCT06834594

• Investigating liver health in adults with Turner Syndrome

  This study looks at liver health in adults with Turner Syndrome to see how common liver problems are and what might cause them.

  Recruiting IRCCS Azienda Ospedaliero-Universitaria di Bologna · Bologna · NCT06794190

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.