What is Endometriosis? Deep Phenotyping to Advance Diagnosis and Treatment

子宫内膜异位症是一种衰弱的，通常是无法治愈的疾病，其特征是子宫内膜的存在- 就像子宫腔外的腺体和间质一样蓬勃发展。这种情况影响到大约10%-15%的 所有处于生育年龄的女性。子宫内膜异位症最常见的症状是疼痛，伴有子宫内膜异位症 在美国所有慢性盆腔疼痛(CPP)病例中，约有83%的病例被诊断为慢性盆腔疼痛(CPP)。当前分类和 子宫内膜异位症的分期系统尚未发现与子宫内膜异位症的水平或慢性化有关的临床有用的相关性。 疼痛。大约30%患有子宫内膜异位症相关疼痛(EAP)的女性继续经历 手术治疗后的持续性疼痛，可能是中枢敏化(CS)引起的。父辈 格兰特：“什么是子宫内膜异位症？促进诊断和治疗的深度表型分析(WISE)，“(PI： 导弹；R01 HD094842；项目日期08/01/18至04/30/23)旨在确定 将告知非侵入性诊断、接受当前治疗的预后的子宫内膜异位症患者，以及 新的治疗途径。本研究副刊旨在促进健康相关研究的多样性 申请正式将Claire伦德女士加入WISE团队并支持她的研究时间 在牛津大学读博士生的最后九个月里。建议的指导团队 还包括文森特教授和西伯格博士；两人都是家长奖的合作伙伴，都是伦德女士的 现任博士导师。作为父母，R01旨在发现子宫内膜异位症的信息亚型和 疾病分类，候选人将通过分析现有的感官数据来补充这项研究 (n=108)在同一样本上进行，以根据低CS和高CS进一步细分子宫内膜异位症参与者。 家长奖最相关的目标是目标3和目标4，这需要描述疾病的表型。 子宫内膜异位症患者的症状表现和表型组学数据的异质性。父辈 R01将统一的医疗记录、参与者数据、血液、尿液和组织样本用于不同的队列 青少年和成年女性(n~2600)。整合定量感官测试和表观组学数据 将进一步确定子宫内膜异位症参与者和疼痛患者在功能性疼痛特征上的差异- 自由控制，并提供一套全面的客观患者表型，补充丰富的自我 报告的表型数据。这些结果将阐明临床表现中的疼痛特征(包括 痛阈值和心理变量)以及是否与干预后的结果有关 (例如，外科手术)。这也将允许为NOVICE的未来试验定义患者选择的策略 针对这些机制的治疗。这项关键研究将在我们目前合作的基础上进行扩展 加强对集中性疼痛对子宫内膜异位症患者影响的研究 通过采用混合方法建立患者亚组的特征。

Endometriosis is a debilitating and often incurable condition characterized by the presence of endometrial- like glands and stroma thriving outside of the uterine cavity. The condition affects approximately 10–15% of all women of reproductive age. The most common symptom of endometriosis is pain, with endometriosis diagnosed in approximately 83% of all chronic pelvic pain (CPP) cases in the US. Current classification and staging systems for endometriosis have not found clinically useful associations with the level or chronicity of pain. Approximately 30% of women with endometriosis-associated pain (EAP) continue to experience persistent pain after surgery to treat the condition, possibly explained by central sensitization (CS). The parent grant, “What is Endometriosis? Deep Phenotyping to Advance Diagnosis and Treatment (WisE),” (PI: Missmer; R01 HD094842; Project dates 08/01/18 to 04/30/23) aims to identify unique classifications of patients with endometriosis that will inform non-invasive diagnostics, prognosis given current treatments, and novel treatment pathways. This Research Supplement to Promote Diversity in Health-Related Research application is requested to formally add Ms. Claire Lunde to the WisE team and support her research time during her final nine months as a doctoral student at the University of Oxford. The proposed mentoring team also includes Professor Vincent and Dr. Sieberg; both are Co-Is on the parent award and are Ms. Lunde’s current Ph.D. supervisors. As the parent R01 aims to discover informative subtypes of endometriosis and disease classifications, the candidate will supplement this research by analyzing existing sensory data (n=108) conducted on the same sample to further subdivide endometriosis participants by low and high CS. The most relevant aims of the parent award are Aims 3 and 4, which entail characterizing disease phenotypes by symptom presentation and heterogeneity of phenomics data for patients with endometriosis. The parent R01 uses harmonized medical records, participant data, blood, urine, and tissue samples for a diverse cohort of adolescents and adult females (n~2600). Integrating Quantitative Sensory Testing and phenomics data will further identify differences in functional pain characteristics between endometriosis participants and pain- free controls and provide a comprehensive set of objective patient phenotypes complementing the rich self- reported phenotype data. These results will elucidate the pain profiles in the clinical presentations (including pain thresholds and psychological variables) and if there is an association with outcomes after interventions (e.g., surgery). This will also allow for defining strategies for patient selection for future trials of novel therapeutics targeting these mechanisms. This critical research will expand upon our current collaborative research by enhancing our understanding of the impact of centralized pain on patients with endometriosis through establishing characteristics of patient subgroups using a mixed-method approach.