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Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction and Premature Ovarian Insufficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04948658
Recruitment Status : Recruiting
First Posted : July 2, 2021
Last Update Posted : August 2, 2022
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

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 ovarian tissue allows for fertility preservation.

Objective:

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.

Eligibility:

Females aged 4-12 who have Turner Syndrome or galactosemia. Also, females aged 13 21 with premature ovarian insufficiency.

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 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

Show Show detailed description

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort
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.



Primary Outcome Measures :
  1. 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.

  2. Tissue for research [ Time Frame: before and after cryopreservation ]
    initial evaluation of number and quality of follicles before and after cryopreservation


Secondary Outcome Measures :
  1. 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.

  2. 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

  3. Compare hormone levels [ Time Frame: before and after cryopreservation ]
    Comparison of hormone levels such as AMH, FSH, LH, and Estradiol between patients and controls.

  4. 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.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   4 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with Turner Syndrome and galactosemia prior to menarche aged 4 years to 12 years, who have not demonstrated signs of premature ovarian insufficiency (FSH>25 IU/L). Individuals with Turner Syndrome with Y chromosome material who undergo prophylactic gonadectomy. Adolescent females age 13 to 21 years old who have undergone menarche and are subsequently diagnosed with premature ovarian insufficiency with their last menstrual period having occurred within 2 years of presentation. Adolescents with diminished ovarian reserve who have contraindication to ovarian stimulation as well as those with diminished ovarian reserve who did not respond to ovarian stimulation.
Criteria
  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following

criteria:

- 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) whose families seek to store ovarian tissue for possible future use.

Or

- Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy.

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

  • Adolescents who have diminished ovarian reserve who respond poorly to ovarian stimulation for egg freezing.
  • Stated willingness to comply with all study procedures and availability for the duration of the study.
  • 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:

  • Females older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent.
  • Females 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
  • Females whose underlying medical condition significantly increases their risk of complications from anesthesia and surgery.
  • Females with POI due to chemotherapy or radiation treatment
  • Pregnancy or lactation

Information from the National Library of Medicine

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


Contacts
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Contact: Veronica Gomez-Lobo, M.D. (301) 435-7567 veronica.gomez-lobo@nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
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Principal Investigator: Veronica Gomez-Lobo, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Information:
Publications:
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT04948658    
Other Study ID Numbers: 10000106
000106-CH
First Posted: July 2, 2021    Key Record Dates
Last Update Posted: August 2, 2022
Last Verified: July 26, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: .We are trying to figure out if we want to share IPD.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
OVARIAN FUNCTION
follicle loss
Natural History
Additional relevant MeSH terms:
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Galactosemias
Turner Syndrome
Gonadal Dysgenesis
Menopause, Premature
Primary Ovarian Insufficiency
Ovarian Diseases
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Adnexal Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases