Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation

Trial Title: Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation

NCT ID: NCT06518746

Condition: Ovarian Cancer

Conditions: Official terms:
Gonadal Dysgenesis
Turner Syndrome

Study type: Interventional

Study phase: N/A

Overall status: Recruiting

Study design:

Allocation: N/A

Intervention model: Single Group Assignment

Primary purpose: Prevention

Masking: None (Open Label)

Intervention:

Intervention type: Other
Intervention name: Cryopreservation of gonadal tissue
Description: 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.
Arm group label: Cryopreservation of gonadal tissue

Summary: 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.

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.

Criteria for eligibility:
Criteria:
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)

Gender: All

Minimum age: N/A

Maximum age: 30 Years

Healthy volunteers: No

Locations:

Facility:
Name: University of Colorado

Address:
City: Aurora
Zip: 80045
Country: United States

Status: Recruiting

Contact:
Last name: Leslie Appiah, MD
Email: LESLIE.APPIAH@CUANSCHUTZ.EDU

Contact backup:
Last name: Jocelyn Phipers, RN

Phone: 303-724-7807
Email: jocelyn.phipers@cuanschutz.edu

Investigator:
Last name: Leslie Appiah, MD
Email: Principal Investigator

Start date: August 16, 2021

Completion date: June 30, 2031

Lead sponsor:
Agency: University of Colorado, Denver
Agency class: Other

Source: University of Colorado, Denver

Record processing date: ClinicalTrials.gov processed this data on November 12, 2024

Source: ClinicalTrials.gov page: https://clinicaltrials.gov/ct2/show/NCT06518746