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.

Study Overview

• Status: Recruiting
• Conditions: Ovarian Cancer
• Intervention / Treatment: Other: Cryopreservation of gonadal tissue

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Estimated): 50
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Jocelyn Phipers; Phone Number: 303-724-7807; Email: Jocelyn.Phipers@cuanschutz.edu
• Study Contact Backup: Name: Kristine Corkum, MD; Phone Number: (720) 777-6174; Email: Kristine.Corkum@childrenscolorado.org

Study Locations

• United States
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • University of Colorado
      • Contact: Jocelyn Phipers, RN; Phone Number: 303-724-7807; Email: jocelyn.phipers@cuanschutz.edu
      • Principal Investigator: Kristine Corkum, MD
      • Contact: Corkum Kristine, MD; Email: Kristine.Corkum@childrenscolorado.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Cryopreservation of gonadal tissue; Enrolled participants will undergo gonadal tissue processing, freezing and cryopreservation after the standard care (gonadectomy, gonadal tissue histologic examination)

Other: Cryopreservation of gonadal tissue; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	Up to 48 hours after obtaining gonadal tissue samples.
Safety, as Assessed via the Proportion of adverse events	Number and proportion of adverse events in gonadal tissue cryopreservation	within 72 hours of gonadal tissue removal
Acceptability as a fertility preservation method, as Assessed via the survey responses by eligible patients and/or their guardians.	Descriptive analysis of survey responses, including the Decision Regret Scale scores (mean/median scores across domains).	Through study completion, up to ten years.
Level of demand	Descriptive analysis of the proportion of eligible patients who elect gonadal tissue cryopreservation (numerator) out of those who are eligible (denominator).	Through study completion, up to ten years.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Create a recruitment database of patients/caregivers that consent to future contact to consider participating in other research studies pertaining to fertility preservation.	Descriptive analysis of the proportion of patients providing additional consent for future	Through study completion, up to ten years.
Determine if there are disparities in the type of patients consenting to future contact for research studies pertaining to fertility preservation	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.	Through study completion, up to ten years.

Collaborators and Investigators

• Sponsor: University of Colorado, Denver
• Investigators: Principal Investigator: Kristine Corkum, MD, University of Colorado, Denver

Study record dates

Study Major Dates

• Study Start (Actual): August 16, 2021
• Primary Completion (Estimated): December 30, 2030
• Study Completion (Estimated): June 30, 2031

Study Registration Dates

• First Submitted: July 3, 2024
• First Submitted That Met QC Criteria: July 18, 2024
• First Posted (Actual): July 24, 2024

Study Record Updates

• Last Update Posted (Estimated): September 18, 2025
• Last Update Submitted That Met QC Criteria: September 12, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Endocrine System Diseases; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genital Diseases, Female; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Neoplasms, Female; Gonadal Disorders; Ovarian Neoplasms
• Other Study ID Numbers: 21-3159

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No