Rodríguez-Lago Iago, Marigorta Urko M, Mateos Beatriz, Mañosa Míriam, Márquez-Mosquera Lucía, Menchén Luis, Rodríguez-Moranta Francisco, Alonso Inmaculada, Aguas Mariam, Alonso-Galán Horacio, Borràs Pere, Castro Beatriz, Domènech Eugeni, Ferreiro-Iglesias Rocío, de Francisco Ruth, García-Alonso Francisco Javier, García Natalia, García-Bosch Orlando, Gargallo Carla, Gisbert Javier P, Iglesias Eva, Mesonero Francisco, Ortiz de Zárate Jone, Ramos Laura, Sáinz Empar, Ladrón Pablo, Suria Carles, Ferrer Cristina Suárez, Tejido Coral, Varela Pilar, Vicente Raquel, Zabana Yamile, Castany Gisela, Rodríguez Eva, Gutiérrez Ana, Barreiro-de Acosta Manuel
Gastroenterology Department, Hospital Universitario de Galdakao, Biobizkaia Health Research Institute, Galdakao 48960, Spain.
Integrative Genomics Laboratory, CIC bioGUNE, Derio, Spain.
Therap Adv Gastroenterol. 2025 May 12;18:17562848251338647. doi: 10.1177/17562848251338647. eCollection 2025.
The period prior to the diagnosis of inflammatory bowel disease (IBD), defined as the preclinical phase, has emerged as a potential target for disease modification strategies. Despite the relevance of an early diagnosis to the prognosis of the disease, only a limited number of patients are diagnosed during this window of opportunity.
To determine the risk of developing symptoms after an incidental diagnosis of IBD and to describe the clinical, genetic, and immunological characteristics of IBD during its preclinical phase.
This study protocol describes a prospective, multicenter cohort study in which incidental (i.e., asymptomatic) IBD within the colorectal cancer screening program will be characterized from a clinical and multi-omic perspective and compared with symptomatic patients and healthy non-IBD controls.
Samples from blood, urine, stool, and intestinal endoscopic biopsies will be obtained at baseline. A second sample set will be obtained after 52 weeks from those who remain asymptomatic; samples will also be obtained in those with new-onset symptoms. Medical treatment will be prescribed in all patients following current guidelines. Follow-up visits will be performed every 6 months for 10 years, and all new-onset symptoms, changes in disease behavior, extraintestinal manifestations, IBD-related medical therapies, or surgeries will be recorded. Two control cohorts will be included: one including recently diagnosed symptomatic IBD patients (<3 months), and another with healthy non-IBD controls after a normal ileocolonoscopy, in whom samples will be obtained at baseline. Samples from patients and controls will undergo genetic, proteomic, transcriptomic, single-cell RNA sequencing, metabolomic, and microbiome analyses, and integration of data between the different omic perspectives will also be performed. The study has been approved by the Basque Country Ethics Committee (PI2021116).
EARLY will generate a unique dataset addressing a previously unexplored area of IBD, with the final aim of describing the prognosis of patients from its earlier phases on the disease and integrating clinical and omic data into useful tools for the long-term prediction of disease outcomes.
NCT05698745.
炎症性肠病（IBD）诊断前的时期，即临床前期，已成为疾病改善策略的潜在靶点。尽管早期诊断与疾病预后相关，但在此机会窗口期间只有少数患者被诊断出来。
确定IBD偶然诊断后出现症状的风险，并描述IBD临床前期的临床、遗传和免疫学特征。
本研究方案描述了一项前瞻性、多中心队列研究，其中将从临床和多组学角度对结直肠癌筛查项目中的偶然（即无症状）IBD进行特征分析，并与有症状患者和健康非IBD对照进行比较。
在基线时采集血液、尿液、粪便和肠道内镜活检样本。对于仍无症状的患者，在52周后采集第二组样本；对于出现新症状的患者也将采集样本。所有患者将按照现行指南进行药物治疗。随访将每6个月进行一次，持续10年，记录所有新出现的症状、疾病行为变化、肠外表现、IBD相关药物治疗或手术情况。将纳入两个对照队列：一个包括最近诊断的有症状IBD患者（<3个月），另一个是在回结肠镜检查正常后的健康非IBD对照，将在基线时采集他们的样本。患者和对照的样本将进行遗传、蛋白质组、转录组、单细胞RNA测序、代谢组和微生物组分析，还将对不同组学角度的数据进行整合。该研究已获得巴斯克地区伦理委员会批准（PI2021116）。
EARLY研究将生成一个独特的数据集，解决IBD以前未探索的领域，最终目的是描述患者从疾病早期阶段的预后情况，并将临床和组学数据整合为用于长期预测疾病结局的有用工具。
NCT05698745。
