Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 2
- 主要终点
- 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.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Prevention
- 盲法
- None
入排标准
- 年龄范围
- — 至 30 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •< 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
排除标准
- •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)
结局指标
主要结局
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.
时间窗: 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.
Safety, as Assessed via the Proportion of adverse events
时间窗: within 72 hours of gonadal tissue removal
Number and proportion of adverse events in gonadal tissue cryopreservation
Acceptability as a fertility preservation method, as Assessed via the survey responses by eligible patients and/or their guardians.
时间窗: Through study completion, up to ten years.
Descriptive analysis of survey responses, including the Decision Regret Scale scores (mean/median scores across domains).
Level of demand
时间窗: 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).
次要结局
- Determine if there are disparities in the type of patients consenting to future contact for research studies pertaining to fertility preservation(Through study completion, up to ten years.)
- Create a recruitment database of patients/caregivers that consent to future contact to consider participating in other research studies pertaining to fertility preservation.(Through study completion, up to ten years.)