Turner SyndromeNCT04948658
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
An observational study of Turner Syndrome and Post-menarcheal Adolescents, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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 Gonadal tissue allows for fertility preservation. Read more about this study
- Who is it for?
- Ages 2 to 35 years
- Conditions the study is for
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Sep 2021to 31 Jul 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: 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) and have detectable anti-Mullerian hormone (AMH). Individuals with classic galactosemia age 2-21. Individuals with Turner Syndrome with Y chromosome material who undergo prophylactic gonadectomy. Adolescent females aged 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. Children and Adolescents (2-24) 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. Individuals with variations in sex characteristics (or differences in sex development, DSD) who undergo gonadectomy for clinical indications.
Who may be able to join
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- 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.
Show all 14Show fewer
- 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.
- 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.
Who cannot join
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Individuals older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent.
- 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.
- Individuals 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
- Individuals with VSC who choose to retain gonads after clinical consulting.
- Individuals with Turner Syndrome who have an undetectable AMH based on testing laboratory reference range.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
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.
Read more
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.
Read the detailed description
Study Description:
Gonadal tissue cryopreservation will be evaluated in individuals with Turner Syndrome, galactosemia, post-menarcheal adolescents with recent premature ovarian insufficiency, and children/adolescents conditions associated with POI and with diminished ovarian reserve (DOR) who have contraindication to ovarian stimulation as well as those with diminished ovarian reserve who did not respond to ovarian stimulation, and individuals with variations in sex characteristics (VSD or differences in sex development, DSD) including those with Turner syndrome with Y chromosome material and those with conditions that require high risk gonadotoxic therapy.
Objectives:
Primary Objectives: After initial evaluation of number and quality of follicles/gametes, the remaining tissue will be utilized to perform research regarding mechanisms of follicle/gametes loss in the included conditions.
- We will perform next generation sequencing on the tissue collected from study participants and ovaries from cadaveric organ donors on cardiopulmonary support. Additionally, some ovarian tissue from patients undergoing gonadotoxic therapy will function as controls.
Hypothesis: next generation sequencing from tissue obtained from gonads in individuals with these conditions will differ significantly from that of controls. Such differences may allow for further hypothesis development regarding the underlying mechanism of follicle loss and/or dysfunction in individuals with these conditions.
Secondary Objective: This protocol is designed to evaluate the feasibility (meaning a reasonable expectation of future fertility based on the anatomy, histology, and physiology of fresh gonadal tissue as well as the effects after freezing and thawing) of gonadal tissue cryopreservation (GTC) for fertility preservation in children with increased risk of loss of gonadal function due to underlying genetic conditions including Turner syndrome or galactosemia and post-menarcheal adolescents with a recent development of premature ovarian insufficiency (POI) or children/adolescents with conditions associated with POI and presenting with diminished ovarian reserve (based on laboratory findings of low AMH (<1.0 ng/mL) and/or mildly elevated FSH (>10 U/L) or those who do not respond to ovarian stimulation for oocyte cryopreservation due to lower follicle counts) or individuals with variations in sex characteristics.
- The feasibility GTC as a fertility preservation option in these individuals will be evaluated through evaluation of number and quality of follicles/gametes found in the tissue prior to freezing and after thawing.
- Lack of follicles/gametes in the gonadal tissue will confirm that GTC is not a viable option for fertility preservation for these populations.
- An attempt to correlate laboratory and imaging markers with follicle/gamete presence and number will be made.
- Hypothesis: Young individuals with Turner syndrome, variations of sex characteristics, classic galactosemia and adolescents with recent POI, and children/adolescents with underlying conditions associated with POI presenting with DOR harbor populations of follicles/gametes which may be preserved through gonadal tissue cryopreservation for future fertility. There will be a variety of follicular findings which will correlate with patient s anti-Mullerian hormone (AMH), age and underlying condition.
- Depending on their underlying condition, individuals with VSC will have gametes (follicles and/or spermatogonia).
- Loss of follicles with cryopreservation and thawing will be similar to that of non-affected individuals.
Tertiary Objectives:
Research regarding inhibition and activation of follicles within the tissue will be undertaken.
- Tissue will be treated with known inhibitors and activators and next generation sequencing will be performed in order to assess gene expression before and after treatment.
- To create a national database of human ovarian tissue of individuals who are undergoing OTC in order to elucidate short and long term outcomes including complication and reproductive health parameters.
Hypothesis: Primordial follicles within gonadal tissue in individuals with these conditions may be inhibited from activating. Such techniques may allow for a decrease in follicle loss with freezing and thawing as well as possible future development of novel treatments to prevent accelerated follicle loss in individuals and adolescent affected by these conditions. Promoting follicle activation prior to re-implantation of the tissue may improve the possibility of achieving pregnancy after tissue re-implantation
Endpoints:
Primary Endpoints:
- Tissue for research: Next generation sequencing will be performed on tissues of affected individuals and compared to age matched controls: patients who undergo GTC for solid organ tumors far from the reproductive system or cadaveric organ donors on cardiopulmonary support. This will allow for specific cellular type comparisons within the ovary and exploratory research regarding possible mechanisms of follicle loss in these populations.
- Next generation sequencing on fresh compared to frozen and thawed tissue. This will assess what transcription changed occur due to the freezing process.
Secondary Endpoint:
- Evaluation of density and quality of follicles/gametes in the gonads of individuals with increased risk of loss of gonadal function due to underlying genetic conditions including Turner syndrome or galactosemia and post-menarcheal adolescents with a recent development of premature ovarian insufficiency (POI) or children/adolescents with conditions associated with POI and presenting with diminished ovarian reserve (based on laboratory findings of low AMH (<1.1 ng/mL) and mildly elevated FSH (10-25 U/L) or those who do not respond to ovarian stimulation for oocyte cryopreservation due to lower follicle counts) or individuals with variations in sex characteristics.
- Correlation of follicle/gamete density and quality with markers such as age, AMH, condition.
- Comparison of hormone levels such as AMH, FSH, LH, and Estradiol between patients and controls.
- Long term data regarding surgical complications
Tertiary Endpoint:
-Evaluate changes in single next generation sequencing in tissue before and after treatment with primordial follicle inhibitors and activators. The remaining tissue will be cryopreserved for future experiments.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
- Keywords
- OVARIAN FUNCTION, Natural History, follicle loss, Variations in Sex Characteristics, Differences in Sex Development
- Medical subject headings
- Turner Syndrome, Galactosemias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Adolescents with DOR | Adolescents with diminished ovarian reserve (DOR) 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. | |
| 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. | |
| 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. | |
| 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). | |
| Turner Syndrome with Y material | Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Single cell/nucleus RNA sequencing
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.
Measured: before and after cryopreservation
Tissue for research
initial evaluation of number and quality of follicles before and after cryopreservation
Measured: before and after cryopreservation
Secondary outcomes (5)
Evaluate gonadal tissue
The ability to safely offer a fertility preservation option to individuals who are at high risk such as POI, DOR and VSC.
Measured: before and after cryopreservation
Evaluate changes in single cell/nucleus RNA sequencing
Evaluate changes in single cell/nucleus RNA sequencing in tissue before and after treatment with primordial follicle inhibitors and activators.
Measured: before and after cryopreservation
Compare hormone levels
Comparison of hormone levels such as AMH, FSH, LH, and Estradiol between patients and controls.
Measured: before and after cryopreservation
density and quality of follicles in the ovaries
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
Measured: before and after cryopreservation
Correlation of follicle density and quality with markers such as age, AMH, condition.
Correlation of follicle density and quality with markers such as age, AMH, condition.
Measured: before and after cryopreservation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jul 2021
- Study start13 Sep 2021
- Primary completion31 Jul 2030 (estimated)
- Study completion31 Jul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Turner SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Veronica Gomez-Lobo, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04948658
- Sponsor's protocol ID
- 10000106
- Other IDs
- 000106-CH
- Status last verified
- 28 Oct 2026
- First submitted
- 1 Jul 2021
- Last updated
- 30 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We are trying to figure out if we want to share IPD.
Publications
Ethics Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org. Fertility preservation and reproduction in patients facing gonadotoxic therapies: an Ethics Committee opinion. Fertil Steril. 2018 Aug;110(3):380-386. doi: 10.1016/j.fertnstert.2018.05.034.
PubMed 30098684Martinez F; International Society for Fertility Preservation-ESHRE-ASRM Expert Working Group. Update on fertility preservation from the Barcelona International Society for Fertility Preservation-ESHRE-ASRM 2015 expert meeting: indications, results and future perspectives. Fertil Steril. 2017 Sep;108(3):407-415.e11. doi: 10.1016/j.fertnstert.2017.05.024. Epub 2017 Jul 21.
PubMed 28739117Andersen ST, Pors SE, Poulsen LC, Colmorn LB, Macklon KT, Ernst E, Humaidan P, Andersen CY, Kristensen SG. Ovarian stimulation and assisted reproductive technology outcomes in women transplanted with cryopreserved ovarian tissue: a systematic review. Fertil Steril. 2019 Nov;112(5):908-921. doi: 10.1016/j.fertnstert.2019.07.008. Epub 2019 Oct 6.
PubMed 31594631
Study at a glance
From the registry record, last updated by the sponsor on 30 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
- ClinicalTrials.gov ID
- NCT04948658
- Acronym / sponsor ID
- 10000106
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
- Keywords
- OVARIAN FUNCTION, Natural History, follicle loss, Variations in Sex Characteristics, Differences in Sex Development
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 13 Sep 2021 (actual)
- Primary completion
- 31 Jul 2030 (estimated)
- Study completion
- 31 Jul 2030 (estimated)
- First posted
- 2 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Description:
Gonadal tissue cryopreservation will be evaluated in individuals with Turner Syndrome, galactosemia, post-menarcheal adolescents with recent premature ovarian insufficiency, and children/adolescents conditions associated with POI and with diminished ovarian reserve (DOR) who have contraindication to ovarian stimulation as well as those with diminished ovarian reserve who did not respond to ovarian stimulation, and individuals with variations in sex characteristics (VSD or differences in sex development, DSD) including those with Turner syndrome with Y chromosome material and those with conditions that require high risk gonadotoxic therapy.
Objectives:
Primary Objectives: After initial evaluation of number and quality of follicles/gametes, the remaining tissue will be utilized to perform research regarding mechanisms of follicle/gametes loss in the included conditions.
- We will perform next generation sequencing on the tissue collected from study participants and ovaries from cadaveric organ donors on cardiopulmonary support. Additionally, some ovarian tissue from patients undergoing gonadotoxic therapy will function as controls.
Hypothesis: next generation sequencing from tissue obtained from gonads in individuals with these conditions will differ significantly from that of controls. Such differences may allow for further hypothesis development regarding the underlying mechanism of follicle loss and/or dysfunction in individuals with these conditions.
Secondary Objective: This protocol is designed to evaluate the feasibility (meaning a reasonable expectation of future fertility based on the anatomy, histology, and physiology of fresh gonadal tissue as well as the effects after freezing and thawing) of gonadal tissue cryopreservation (GTC) for fertility preservation in children with increased risk of loss of gonadal function due to underlying genetic conditions including Turner syndrome or galactosemia and post-menarcheal adolescents with a recent development of premature ovarian insufficiency (POI) or children/adolescents with conditions associated with POI and presenting with diminished ovarian reserve (based on laboratory findings of low AMH (<1.0 ng/mL) and/or mildly elevated FSH (>10 U/L) or those who do not respond to ovarian stimulation for oocyte cryopreservation due to lower follicle counts) or individuals with variations in sex characteristics.
- The feasibility GTC as a fertility preservation option in these individuals will be evaluated through evaluation of number and quality of follicles/gametes found in the tissue prior to freezing and after thawing.
- Lack of follicles/gametes in the gonadal tissue will confirm that GTC is not a viable option for fertility preservation for these populations.
- An attempt to correlate laboratory and imaging markers with follicle/gamete presence and number will be made.
- Hypothesis: Young individuals with Turner syndrome, variations of sex characteristics, classic galactosemia and adolescents with recent POI, and children/adolescents with underlying conditions associated with POI presenting with DOR harbor populations of follicles/gametes which may be preserved through gonadal tissue cryopreservation for future fertility. There will be a variety of follicular findings which will correlate with patient s anti-Mullerian hormone (AMH), age and underlying condition.
- Depending on their underlying condition, individuals with VSC will have gametes (follicles and/or spermatogonia).
- Loss of follicles with cryopreservation and thawing will be similar to that of non-affected individuals.
Tertiary Objectives:
Research regarding inhibition and activation of follicles within the tissue will be undertaken.
- Tissue will be treated with known inhibitors and activators and next generation sequencing will be performed in order to assess gene expression before and after treatment.
- To create a national database of human ovarian tissue of individuals who are undergoing OTC in order to elucidate short and long term outcomes including complication and reproductive health parameters.
Hypothesis: Primordial follicles within gonadal tissue in individuals with these conditions may be inhibited from activating. Such techniques may allow for a decrease in follicle loss with freezing and thawing as well as possible future development of novel treatments to prevent accelerated follicle loss in individuals and adolescent affected by these conditions. Promoting follicle activation prior to re-implantation of the tissue may improve the possibility of achieving pregnancy after tissue re-implantation
Endpoints:
Primary Endpoints:
- Tissue for research: Next generation sequencing will be performed on tissues of affected individuals and compared to age matched controls: patients who undergo GTC for solid organ tumors far from the reproductive system or cadaveric organ donors on cardiopulmonary support. This will allow for specific cellular type comparisons within the ovary and exploratory research regarding possible mechanisms of follicle loss in these populations.
- Next generation sequencing on fresh compared to frozen and thawed tissue. This will assess what transcription changed occur due to the freezing process.
Secondary Endpoint:
- Evaluation of density and quality of follicles/gametes in the gonads of individuals with increased risk of loss of gonadal function due to underlying genetic conditions including Turner syndrome or galactosemia and post-menarcheal adolescents with a recent development of premature ovarian insufficiency (POI) or children/adolescents with conditions associated with POI and presenting with diminished ovarian reserve (based on laboratory findings of low AMH (<1.1 ng/mL) and mildly elevated FSH (10-25 U/L) or those who do not respond to ovarian stimulation for oocyte cryopreservation due to lower follicle counts) or individuals with variations in sex characteristics.
- Correlation of follicle/gamete density and quality with markers such as age, AMH, condition.
- Comparison of hormone levels such as AMH, FSH, LH, and Estradiol between patients and controls.
- Long term data regarding surgical complications
Tertiary Endpoint:
-Evaluate changes in single next generation sequencing in tissue before and after treatment with primordial follicle inhibitors and activators. The remaining tissue will be cryopreserved for future experiments.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Adolescents with DOR | – | –Adolescents with diminished ovarian reserve (DOR) 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. |
| 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. |
| 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. |
| 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). |
| Turner Syndrome with Y material | – | –Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy. |
Who may qualify
- Ages
- 2 to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- 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) and have detectable anti-Mullerian hormone (AMH). Individuals with classic galactosemia age 2-21. Individuals with Turner Syndrome with Y chromosome material who undergo prophylactic gonadectomy. Adolescent females aged 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. Children and Adolescents (2-24) 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. Individuals with variations in sex characteristics (or differences in sex development, DSD) who undergo gonadectomy for clinical indications.
Key inclusion criteria (14 listed)
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- 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
Key exclusion criteria (8 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Individuals older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent.
- 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.
- Individuals whose underlying medical condition significantly increases their risk of complications from anesthesia and surgery.
- Females with POI due to chemotherapy or radiation treatment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
5 secondary outcomes
Evaluate gonadal tissue
Time frame: before and after cryopreservation
Evaluate changes in single cell/nucleus RNA sequencing
Time frame: before and after cryopreservation
Compare hormone levels
Time frame: before and after cryopreservation
density and quality of follicles in the ovaries
Time frame: before and after cryopreservation
Correlation of follicle density and quality with markers such as age, AMH, condition.
Time frame: before and after cryopreservation
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Oct 2026.
- Background: PubMed 30098684Ethics Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org. Fertility preservation and reproduction in patients facing gonadotoxic therapies: an Ethics Committee opinion. Fertil Steril. 2018 Aug;110(3):380-386. doi: 10.1016/j.fertnstert.2018.05.034.
- Background: PubMed 28739117Martinez F; International Society for Fertility Preservation-ESHRE-ASRM Expert Working Group. Update on fertility preservation from the Barcelona International Society for Fertility Preservation-ESHRE-ASRM 2015 expert meeting: indications, results and future perspectives. Fertil Steril. 2017 Sep;108(3):407-415.e11. doi: 10.1016/j.fertnstert.2017.05.024. Epub 2017 Jul 21.
- Background: PubMed 31594631Andersen ST, Pors SE, Poulsen LC, Colmorn LB, Macklon KT, Ernst E, Humaidan P, Andersen CY, Kristensen SG. Ovarian stimulation and assisted reproductive technology outcomes in women transplanted with cryopreserved ovarian tissue: a systematic review. Fertil Steril. 2019 Nov;112(5):908-921. doi: 10.1016/j.fertnstert.2019.07.008. Epub 2019 Oct 6.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. We are trying to figure out if we want to share IPD.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Veronica Gomez-Lobo, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Turner Syndrome and Post-menarcheal Adolescents, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Veronica Gomez-Lobo, M.D. ((301) 435-7567, veronica.gomez-lobo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Single cell/nucleus RNA sequencing (time frame: before and after cryopreservation). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04948658, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Oct 2026.