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NCT Number: NCT06518746

Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation

The "Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation" study is open to a subset of patients with disorders of sex development (DSD) which is associated with the risk of malignancy and a high risk of infertility or sterility. For these patients, experimental gonadal tissue cryopreservation is the only fertility preservation option available. The overall objective of this study is to determine the safety and efficacy of gonadal tissue cryopreservation as a method of preserving fertility and/or restoring hormonal function in patients with gonadal dysgenesis who are at risk of decreased fertility potential or malignancy.

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Key information

Conditions

Ovarian Cancer Adnexal Diseases Endocrine Gland Neoplasms Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genital Diseases Genital Diseases, Female Genital Neoplasms, Female Gonadal Disorders Neoplasms Neoplasms by Site Ovarian Diseases Ovarian Neoplasms Urogenital Diseases Urogenital Neoplasms

Age range

Up to 30 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Colorado

Aurora, Colorado, 80045, United States

Location status: Recruiting

Location contact

Corkum Kristine, MD

CONTACT

[email protected]

Jocelyn Phipers, RN

CONTACT

[email protected]

303-724-7807

Kristine Corkum, MD

PRINCIPAL_INVESTIGATOR

About this study

Unlike the oncology population, in which patients have inherently normal fertility potential and reproductive function, individuals with DSD may have infertility caused by 1) abnormal gonadal development, 2) gonadectomy performed for risk of malignancy, 3) abnormal hormone production or, 4) discordance, or difference, between gonadal type and gender identity. Fertility potential differs according to the specific DSD diagnosis and can also be influenced by age, genetic mosaicism, and/or risk of developing a gonadal malignancy.

Abnormal gonadal development can result in gonadal failure, either in infancy or progressively, such that individuals may not undergo spontaneous puberty, menarche or spermarche. Progressive germ cell loss may occur throughout childhood. In addition, abnormal gonadal development in certain cellular environments leads to an increased risk of germ cell cancer. Traditionally, it was recommended to perform gonadectomy at the time of diagnosis in all DSD conditions with a risk of gonadal tumor formation. The estimated tumor risk ranges from 2% in complete androgen insensitivity syndrome to 40% in partial androgen insensitivity syndrome. Advances in stratification of tumor risk have led to a more diagnosis-specific assessment of risk, but tumor risk remains a major concern.

Thus, the investigators are conducting a pilot study to assess the safety and efficacy of gonadal tissue cryopreservation as a method of preserving fertility and/or restoring hormonal function in patients with gonadal dysgenesis who are at risk of decreased fertility potential or malignancy.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • < 30 years of age
  • Individuals diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue and will have their gonads removed for a clinical indication
  • Individuals diagnosed with a disorder of sex development who are at risk of primary ovarian insufficiency (POI) due to an underlying genetic condition

Exclusion criteria

  • Pregnancy
  • Patients likely to retain inherent fertility and reproductive function
  • Patients deemed high risk for perioperative complications
  • Patients 7-17 years of age unable to provide assent (i.e. significant psychiatric problems/cognitive delay)
  • Patients 18 and older unable to provide consent (i.e. significant psychiatric problems/cognitive delay)

Treatment and study plan

Cryopreservation of gonadal tissue

Other

Patients at risk for primary gonadal tumors will undergo unilateral or bilateral gonadectomy for clinical purposes as a standard of care, and a portion of the surgically removed tissue will be cryopreserved for fertility preservation. The pathologist will assess the tissue using sterile technique and every other section will undergo histologic analysis, including evaluation for the presence of tumor or viable germ cell elements. The sections of the tissue for fertility preservation will be refrigerated and held until a final diagnosis is made on the tissue sections that are being processed for histologic analysis. If no tumor is identified and viable germ cell elements are identified, the tissue sections allotted for preservation will be sent in holding media for processing and cryopreservation.

Primary outcomes

  1. Efficacy, as Assessed via the Proportion of total samples containing viable gonadal tissue and/or the presence of germ cells, and the Proportion of total samples that were successfully cryopreserved for the patient's future use.

    Time frame: Up to 48 hours after obtaining gonadal tissue samples.

    Determine the efficacy of gonadal tissue and germ cells cryopreservation for patients' future use to restore fertility and/or hormone function. Efficacy is defined as at least 30% of patients having viable gonadal tissue and/or germ cells present.

  2. Safety, as Assessed via the Proportion of adverse events

    Time frame: within 72 hours of gonadal tissue removal

    Number and proportion of adverse events in gonadal tissue cryopreservation

  3. Acceptability as a fertility preservation method, as Assessed via the survey responses by eligible patients and/or their guardians.

    Time frame: Through study completion, up to ten years.

    Descriptive analysis of survey responses, including the Decision Regret Scale scores (mean/median scores across domains).

  4. Level of demand

    Time frame: Through study completion, up to ten years.

    Descriptive analysis of the proportion of eligible patients who elect gonadal tissue cryopreservation (numerator) out of those who are eligible (denominator).

Secondary outcomes

  1. Create a recruitment database of patients/caregivers that consent to future contact to consider participating in other research studies pertaining to fertility preservation.

    Time frame: Through study completion, up to ten years.

    Descriptive analysis of the proportion of patients providing additional consent for future

  2. Determine if there are disparities in the type of patients consenting to future contact for research studies pertaining to fertility preservation

    Time frame: Through study completion, up to ten years.

    Descriptive analysis of the type of patients (including but not limited to age, race, ethnicity, insurance type, medical history/diagnosis) who elect to be contacted for future research opportunities. A Pearson Chi-squared test can be used to examine if this proportion varies across groups. A 2-sample t-test can be used to compare age (continuous) between those who consent to future research and those who did not.

Study contacts

Contact information is provided by the study sponsor or research team.

Jocelyn Phipers

CONTACT

[email protected]

303-724-7807

Kristine Corkum, MD

CONTACT

[email protected]

(720) 777-6174

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Registry information

Important dates

Study start
2021
Primary completion
2030
Study completion
2031
First posted
Jul 24, 2024
Registry last updated
Sep 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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