Uncovering Genetic Causes for Familial Cases of Female Infertility Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- The discovery of novel genetic variants causative for this disorder could significantly impact the understanding of familial endometriosis. If such disease-causing mutations are identified, they may help in early diagnosis of other affected family members who may also have inherited these variants, thus helping them be better prepared to manage the condition.
研究概览
简要总结
Endometriosis has a multifactorial etiology involving many genetic and environmental factors. Endometriosis is a complex disorder and its pathogenesis is said to be polygenic, involving many immune, angiogenic, and biochemical pathways. However, familial cases of severe endometriosis have been reported in literature, (Buggio et al., 2014; Zharkin et al., 2018) and various studies have pointed towards familial aggregation, indicating monogenic causes for the disease. (Kim et al., 2021; Nousiainen et al., 2023; Albertsen et al., 2019)
Based on literature where mendelian inheritance patterns for familial occurrence of endometriosis have been proposed, such as above, it appears that a substantial number of cases of endometriosis may have a monogenic cause and exploring such familial cases would yield novel insights and help identify single genes as potential causes of endometriosis.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 12.00 Year(s) 至 80.00 Year(s)（—）
- 性别
- All
入选标准
- •The study participants will include endometriosis patients and their affected and unaffected family members who have consented to be included in the study.
- •The study participants will include women who have attained menarche, irrespective of their age.
- •Patients with clinical diagnosis of endometriosis based on medical examination or via diagnostic imaging using ultrasound.
- •Patients having a family history of endometriosis with at least one affected family member.
- •Unaffected family members of patients diagnosed with endometriosis.
排除标准
- •Patients with no family history will be excluded.
结局指标
主要结局
The discovery of novel genetic variants causative for this disorder could significantly impact the understanding of familial endometriosis. If such disease-causing mutations are identified, they may help in early diagnosis of other affected family members who may also have inherited these variants, thus helping them be better prepared to manage the condition.
时间窗: Three years
次要结局
- This study will identify novel genes for endometriosis, further help understand the biology of the disease, and facilitate the development of diagnostics and therapeutics in the future.(Three years)
研究者
ADITI GUPTA
Kasturba Medical College, Manipal