RARE DISEASE
Primary eosinophilic gastrointestinal disease
Primary eosinophilic gastrointestinal disease
Primary eosinophilic gastrointestinal disease
Synonyms: EGID
Synonyms: EGID
Synonyms: EGID
Drug discovery
1
drug
With orphan designation
Overview
Primary eosinophilic gastrointestinal diseases (EGIDs) are chronic, immune-mediated disorders characterized by eosinophil-predominant inflammation in the GI tract without secondary causes. They include eosinophilic esophagitis (EoE), gastritis, gastroenteritis, and colitis, often coexisting with allergic conditions like asthma or food allergy. Symptoms vary by location but frequently cause dysphagia, abdominal pain, and nutritional deficits, requiring endoscopic diagnosis via biopsy [1][6][10].
Categories: rare gastroenterological diseases
Research Papers
303 drug discovery papers about Primary eosinophilic gastrointestinal disease, with 1 first-in-class and 14 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
303 drug discovery papers about Primary eosinophilic gastrointestinal disease, with 1 first-in-class and 14 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-06-01 | OC63 Dupilumab in highly refractory eosinophilic esophagitis in children
Eosinophilic Oesophagitis (EOE) has several recognised conventional treatments. More recently dupilumab (anti IL-4 and IL-13) has been shown to an effective treatment for EoE for children and adults. There is a paucity of data on the efficacy of dupilumab in the treatment of refractory EoE or with associated non-EoE EGID. In this study we aimed to identify indication and efficacy of dupilumab in multi-treatment refractory EoE in children. We conducted a retrospective review of patients with eosinophilic oesophagitis (EoE) refractory to conventional therapies who received dupilumab for a minimum of three months at our specialized centre. Clinical (PEESS vers. 2) and histological responses were evaluated at 3 and 6 months following treatment initiation. Four male patients (mean age 13.5 years) were included; three had isolated eosinophilic oesophagitis (EoE), and one had concomitant eosinophilic colitis. Abdominal pain was the predominant symptom (100%), followed by dysphagia, vomiting, and regurgitation (75%), and food impaction (50%). The primary indication for initiating dupilumab was refractory disease despite multiple conventional treatments, including corticosteroids. Two patients (50%) developed adrenal insufficiency secondary to prolonged corticosteroid use. None of the patients achieved clinical or histological remission prior to starting dupilumab. Following dupilumab therapy, two patients (50%) demonstrated both clinical improvement and histological remission at 3 and 6 months respectively. One patient (25%) showed partial clinical response without histological remission within six months of treatment, leading to cessation of steroids and initiation of an elemental diet. Dupilumab is licensed by not remunerated in the UK for children over the age of 1. Due to the requirement for local funding, its use is restricted. Approval has been gained at our site for those who have displayed refractory EoE or who have significant side-effects to treatment. This small study shows that dupilumab can be an effective treatment for this cohort and should be considered by funding bodies for use more widely in the UK.
2026-06-01 | Effectiveness of once-daily orodispersible budesonide 1 mg as maintenance therapy in eosinophilic oesophagitis: a pragmatic real-world cohort study
Aims Eosinophilic oesophagitis (EoE) is a chronic immune-mediated oesophageal disease requiring long-term anti-inflammatory therapy [ 1 ]. Budesonide orodispersible tablets (BOT) are licensed for induction and maintenance treatment [ 2 ], although real-world induction outcomes are more variable. The population-based DanEoE cohort reported 48% histological, 57% clinical and 39% combined remission after induction [ 3 ], illustrating the challenge of achieving stable disease control outside trial conditions. In the UK, maintenance prescribing policies vary geographically, leading many patients to choose a once-daily 1 mg regimen after induction to avoid treatment breaks. However, evidence for the effectiveness of this regimen is limited. This study aims to evaluate the real-world effectiveness of once-daily orodispersible budesonide 1 mg as maintenance therapy in adult EoE patients. Methods We conducted a single-centre prospective observational cohort study, over 25 months (Oct 2023–Nov 2025), of adults with confirmed EoE who achieved histological remission<15 eosinophils / high powered field (phpf) following induction BOT, and chose to take 1 mg once-daily maintenance. Disease activity was assessed using endoscopy and/or capsule sponge test (Endosign) with EREFS scoring, histology (peak eosinophil count phpf). Symptoms were documented using the Dysphagia Symptom Questionnaire (DSQ) and direct symptom enquiry. Primary endpoints were histological and clinico-histological remission. Secondary endpoints included DSQ outcomes and phenotype-based comparisons. Results 30 patients commenced once-daily 1 mg maintenance therapy (median age 46 years, IQR 32–58; 57% male). The median duration of maintenance treatment before reassessment was 17.9 weeks (IQR 12.3–35.6). Of these, 29/30 (96.7%) patients underwent gastroscopy, and 20/30 (66.7%) had same-day capsule sponge sampling; 1/30 (3.3%) had capsule sponge only. Using the highest peak eosinophil count across gastroscopy and capsule sponge, 25/30 (83.3%) were in histological remission and 5/30 (16.7%) had active inflammation. Clinical remission occurred in 26/30 (86.7%) patients. Clinical remission occurred in 26/30 (86.7%). DSQ scores were available for 23/30 (76.7%), of whom 14/23 (60.9%) had a DSQ score of 0. Clinico-histological remission occurred in 23/30 (76.7%). Among the 29 gastroscopy patients, 16/29 (55.2%) had fibrostenotic disease and 12/29 (41.4%) had inflammatory-only disease. Histological remission occurred in 13/16 (81.3%) fibrostenotic patients vs 11/12 (91.7%) inflammatory patients (Fisher p=0.61). Clinical remission occurred in 13/16 (81.3%) vs 11/12 (91.7%) (p=0.61). Clinico-histological remission occurred in 11/16 (68.8%) vs 10/12 (83.3%) (p=0.66). Median treatment duration did not differ significantly between phenotypes (p=0.35). Conclusions In this real-world cohort once-daily 1mg BOT maintained remission with similar or better efficacy to reported series using twice daily dosing. These findings support dose de-escalation after induction therapy to a once daily 1mg regime which may be easier to implement. They also demonstrate the previously reported use of capsule sponge sampling in monitoring EoE. Larger studies with extended follow-up are needed to confirm these findings but this study supports current pragmatic clinical practice. Additionally, once daily treatment may also improve compliance and be more financially acceptable. Publication History Article published online: 05 June 2026 © 2026. European Society of Gastrointestinal Endoscopy. All rights reserved. Georg Thieme Verlag KG Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany
2026-05-18 | Presentation and treatment of eosinophilic gastroenteritis in Busan and Gyeongnam, Korea: A multicenter study
BACKGROUND Eosinophilic gastroenteritis (EGE) is a relatively rare disease characterized by eosinophilic infiltration of the gastrointestinal wall. Limited data are available regarding the clinical characteristics, treatment patterns, and outcomes of patients with EGE in Korea. AIM To investigate the clinical features, endoscopic findings, treatments, outcomes, and treatment response and relapse predictors in the abovementioned population. METHODS We retrospectively reviewed the medical records of 73 patients with histologically confirmed EGE in Busan and Gyeongnam, Korea, from 2010 to 2023. Clinical, endoscopic, laboratory, and treatment-related data were collected. RESULTS The median patient age was 52 years, and 50.7% of the patients were female. Of the patients, 35 had enterocolitis, 34 had gastroduodenitis, and four had gastroenterocolitis. Endoscopic abnormalities were observed in 82.2% of the patients. Proton pump inhibitors were prescribed primarily for gastroduodenitis, whereas corticosteroids were prescribed more frequently for enterocolitis and gastroenterocolitis. The clinical response rates were high for all groups (75.0%-90.3%); however, relapse occurred more frequently in patients with enterocolitis (43.3%). Male sex was associated with clinical response, although this association should be interpreted with caution; no significant predictors of relapse were identified. CONCLUSION Patients with EGE exhibit diverse clinical characteristics and treatment patterns. While the clinical response to primary treatment is relatively high, relapse is more common in patients with enterocolitis, indicating the need for location-based strategies and close follow-up.
2026-04-13 | Dupilumab as a rescue therapy for steroid-dependent eosinophilic gastritis in a child unresponsive to elimination diet: a case report
Background: Eosinophilic gastrointestinal diseases (EGIDs) are chronic, rare and heterogeneous disorders characterized by eosinophilic infiltration of gastrointestinal tract, resulting in gastrointestinal dysfunction. Although standard-of-care therapeutic strategies for eosinophilic esophagitis (EoE) are well-defined, limited evidence on successful treatment of eosinophilic gastrointestinal disorders beyond eosinophilic esophagitis (non-EoE EGIDs) in children is available. While dupilumab, a monoclonal antibody that inhibits interleukin (IL)-4 and IL-13 signaling, is currently approved in children with EoE, only anecdotal studies assessed its effects in children with non-EoE-EGIDs. Case presentation: This case report describes the successful use of dupilumab as a rescue therapy for a 14-year-old male with concurrent EoE and Eosinophilic Gastritis (EoG), unresponsive to dietetic approach. Despite initial responsiveness to steroid treatments, the patient experienced challenges in tapering off oral steroids without relapse. The administration of dupilumab at a dosage of 300 mg once a week led to clinical, endoscopic, and histological improvement after three months of therapy, highlighting its efficacy as a well-tolerated treatment option. Conclusions: The successful use of dupilumab as a single-therapy therapy in a steroid-dependent child, who did not respond to dietary interventions, highlights its potential in mitigating the development of steroid-related side effects. This report underscores the need for further research and clinical trials to deepen our understanding and optimize the use of dupilumab and other monoclonal antibodies in managing pediatric EGIDs, establishing a basis for the future development of treatment guidelines and protocols.
2026-04-13 | Eosinophilic and mastocytic gastrointestinal diseases: current knowledge and controversy in histopathologic diagnosis.
Eosinophilic and mastocytic gastrointestinal (GI) diseases represent a spectrum of immune-mediated inflammatory disorders characterized by abnormal accumulation of eosinophils or mast cells in the GI tract. This review summarizes current knowledge on epidemiology, pathogenesis, histopathologic features, diagnostic challenges, and ongoing controversies across three major domains: eosinophilic esophagitis (EoE), non-EoE eosinophilic gastrointestinal diseases (EGID), and mastocytic GI diseases. Although these entities are increasingly recognized in clinical practice, their diagnosis remains challenging because clinical manifestations are often nonspecific and overlap with other inflammatory and functional GI disorders. Consequently, substantial uncertainties persist regarding diagnostic criteria and clinical relevance of certain histologic patterns. For non-EoE EGIDs, histologic diagnosis is particularly complicated by wide regional variation in normal eosinophil densities, the lack of universally accepted diagnostic cutoffs in adults, and limited correlation between tissue eosinophil burden and symptom severity. In mastocytic GI diseases, additional challenges include distinguishing reactive mast cell hyperplasia from clonal mastocytosis and interpreting proposed entities such as mastocytic enterocolitis, whose clinical significance remains controversial. Given these limitations, histopathologic evaluation of GI biopsies plays a central role in disease recognition and classification. This review emphasizes practical aspects of tissue interpretation, including site-specific reference ranges, proposed diagnostic thresholds, characteristic morphologic patterns, ancillary immunohistochemical and molecular studies, and common interpretive pitfalls encountered in routine practice. Recognizing these diseases ultimately requires careful clinicopathologic correlation, integrating histologic findings with clinical, endoscopic, and molecular data. Improved standardization of diagnostic criteria and clearer definition of histologic thresholds remain critical unmet needs for both pathologists and clinicians managing these complex disorders.
2026-06-01 | OC63 Dupilumab in highly refractory eosinophilic esophagitis in children
Eosinophilic Oesophagitis (EOE) has several recognised conventional treatments. More recently dupilumab (anti IL-4 and IL-13) has been shown to an effective treatment for EoE for children and adults. There is a paucity of data on the efficacy of dupilumab in the treatment of refractory EoE or with associated non-EoE EGID. In this study we aimed to identify indication and efficacy of dupilumab in multi-treatment refractory EoE in children. We conducted a retrospective review of patients with eosinophilic oesophagitis (EoE) refractory to conventional therapies who received dupilumab for a minimum of three months at our specialized centre. Clinical (PEESS vers. 2) and histological responses were evaluated at 3 and 6 months following treatment initiation. Four male patients (mean age 13.5 years) were included; three had isolated eosinophilic oesophagitis (EoE), and one had concomitant eosinophilic colitis. Abdominal pain was the predominant symptom (100%), followed by dysphagia, vomiting, and regurgitation (75%), and food impaction (50%). The primary indication for initiating dupilumab was refractory disease despite multiple conventional treatments, including corticosteroids. Two patients (50%) developed adrenal insufficiency secondary to prolonged corticosteroid use. None of the patients achieved clinical or histological remission prior to starting dupilumab. Following dupilumab therapy, two patients (50%) demonstrated both clinical improvement and histological remission at 3 and 6 months respectively. One patient (25%) showed partial clinical response without histological remission within six months of treatment, leading to cessation of steroids and initiation of an elemental diet. Dupilumab is licensed by not remunerated in the UK for children over the age of 1. Due to the requirement for local funding, its use is restricted. Approval has been gained at our site for those who have displayed refractory EoE or who have significant side-effects to treatment. This small study shows that dupilumab can be an effective treatment for this cohort and should be considered by funding bodies for use more widely in the UK.
2026-06-01 | Effectiveness of once-daily orodispersible budesonide 1 mg as maintenance therapy in eosinophilic oesophagitis: a pragmatic real-world cohort study
Aims Eosinophilic oesophagitis (EoE) is a chronic immune-mediated oesophageal disease requiring long-term anti-inflammatory therapy [ 1 ]. Budesonide orodispersible tablets (BOT) are licensed for induction and maintenance treatment [ 2 ], although real-world induction outcomes are more variable. The population-based DanEoE cohort reported 48% histological, 57% clinical and 39% combined remission after induction [ 3 ], illustrating the challenge of achieving stable disease control outside trial conditions. In the UK, maintenance prescribing policies vary geographically, leading many patients to choose a once-daily 1 mg regimen after induction to avoid treatment breaks. However, evidence for the effectiveness of this regimen is limited. This study aims to evaluate the real-world effectiveness of once-daily orodispersible budesonide 1 mg as maintenance therapy in adult EoE patients. Methods We conducted a single-centre prospective observational cohort study, over 25 months (Oct 2023–Nov 2025), of adults with confirmed EoE who achieved histological remission<15 eosinophils / high powered field (phpf) following induction BOT, and chose to take 1 mg once-daily maintenance. Disease activity was assessed using endoscopy and/or capsule sponge test (Endosign) with EREFS scoring, histology (peak eosinophil count phpf). Symptoms were documented using the Dysphagia Symptom Questionnaire (DSQ) and direct symptom enquiry. Primary endpoints were histological and clinico-histological remission. Secondary endpoints included DSQ outcomes and phenotype-based comparisons. Results 30 patients commenced once-daily 1 mg maintenance therapy (median age 46 years, IQR 32–58; 57% male). The median duration of maintenance treatment before reassessment was 17.9 weeks (IQR 12.3–35.6). Of these, 29/30 (96.7%) patients underwent gastroscopy, and 20/30 (66.7%) had same-day capsule sponge sampling; 1/30 (3.3%) had capsule sponge only. Using the highest peak eosinophil count across gastroscopy and capsule sponge, 25/30 (83.3%) were in histological remission and 5/30 (16.7%) had active inflammation. Clinical remission occurred in 26/30 (86.7%) patients. Clinical remission occurred in 26/30 (86.7%). DSQ scores were available for 23/30 (76.7%), of whom 14/23 (60.9%) had a DSQ score of 0. Clinico-histological remission occurred in 23/30 (76.7%). Among the 29 gastroscopy patients, 16/29 (55.2%) had fibrostenotic disease and 12/29 (41.4%) had inflammatory-only disease. Histological remission occurred in 13/16 (81.3%) fibrostenotic patients vs 11/12 (91.7%) inflammatory patients (Fisher p=0.61). Clinical remission occurred in 13/16 (81.3%) vs 11/12 (91.7%) (p=0.61). Clinico-histological remission occurred in 11/16 (68.8%) vs 10/12 (83.3%) (p=0.66). Median treatment duration did not differ significantly between phenotypes (p=0.35). Conclusions In this real-world cohort once-daily 1mg BOT maintained remission with similar or better efficacy to reported series using twice daily dosing. These findings support dose de-escalation after induction therapy to a once daily 1mg regime which may be easier to implement. They also demonstrate the previously reported use of capsule sponge sampling in monitoring EoE. Larger studies with extended follow-up are needed to confirm these findings but this study supports current pragmatic clinical practice. Additionally, once daily treatment may also improve compliance and be more financially acceptable. Publication History Article published online: 05 June 2026 © 2026. European Society of Gastrointestinal Endoscopy. All rights reserved. Georg Thieme Verlag KG Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany
2026-05-18 | Presentation and treatment of eosinophilic gastroenteritis in Busan and Gyeongnam, Korea: A multicenter study
BACKGROUND Eosinophilic gastroenteritis (EGE) is a relatively rare disease characterized by eosinophilic infiltration of the gastrointestinal wall. Limited data are available regarding the clinical characteristics, treatment patterns, and outcomes of patients with EGE in Korea. AIM To investigate the clinical features, endoscopic findings, treatments, outcomes, and treatment response and relapse predictors in the abovementioned population. METHODS We retrospectively reviewed the medical records of 73 patients with histologically confirmed EGE in Busan and Gyeongnam, Korea, from 2010 to 2023. Clinical, endoscopic, laboratory, and treatment-related data were collected. RESULTS The median patient age was 52 years, and 50.7% of the patients were female. Of the patients, 35 had enterocolitis, 34 had gastroduodenitis, and four had gastroenterocolitis. Endoscopic abnormalities were observed in 82.2% of the patients. Proton pump inhibitors were prescribed primarily for gastroduodenitis, whereas corticosteroids were prescribed more frequently for enterocolitis and gastroenterocolitis. The clinical response rates were high for all groups (75.0%-90.3%); however, relapse occurred more frequently in patients with enterocolitis (43.3%). Male sex was associated with clinical response, although this association should be interpreted with caution; no significant predictors of relapse were identified. CONCLUSION Patients with EGE exhibit diverse clinical characteristics and treatment patterns. While the clinical response to primary treatment is relatively high, relapse is more common in patients with enterocolitis, indicating the need for location-based strategies and close follow-up.
2026-04-13 | Dupilumab as a rescue therapy for steroid-dependent eosinophilic gastritis in a child unresponsive to elimination diet: a case report
Background: Eosinophilic gastrointestinal diseases (EGIDs) are chronic, rare and heterogeneous disorders characterized by eosinophilic infiltration of gastrointestinal tract, resulting in gastrointestinal dysfunction. Although standard-of-care therapeutic strategies for eosinophilic esophagitis (EoE) are well-defined, limited evidence on successful treatment of eosinophilic gastrointestinal disorders beyond eosinophilic esophagitis (non-EoE EGIDs) in children is available. While dupilumab, a monoclonal antibody that inhibits interleukin (IL)-4 and IL-13 signaling, is currently approved in children with EoE, only anecdotal studies assessed its effects in children with non-EoE-EGIDs. Case presentation: This case report describes the successful use of dupilumab as a rescue therapy for a 14-year-old male with concurrent EoE and Eosinophilic Gastritis (EoG), unresponsive to dietetic approach. Despite initial responsiveness to steroid treatments, the patient experienced challenges in tapering off oral steroids without relapse. The administration of dupilumab at a dosage of 300 mg once a week led to clinical, endoscopic, and histological improvement after three months of therapy, highlighting its efficacy as a well-tolerated treatment option. Conclusions: The successful use of dupilumab as a single-therapy therapy in a steroid-dependent child, who did not respond to dietary interventions, highlights its potential in mitigating the development of steroid-related side effects. This report underscores the need for further research and clinical trials to deepen our understanding and optimize the use of dupilumab and other monoclonal antibodies in managing pediatric EGIDs, establishing a basis for the future development of treatment guidelines and protocols.
2026-04-13 | Eosinophilic and mastocytic gastrointestinal diseases: current knowledge and controversy in histopathologic diagnosis.
Eosinophilic and mastocytic gastrointestinal (GI) diseases represent a spectrum of immune-mediated inflammatory disorders characterized by abnormal accumulation of eosinophils or mast cells in the GI tract. This review summarizes current knowledge on epidemiology, pathogenesis, histopathologic features, diagnostic challenges, and ongoing controversies across three major domains: eosinophilic esophagitis (EoE), non-EoE eosinophilic gastrointestinal diseases (EGID), and mastocytic GI diseases. Although these entities are increasingly recognized in clinical practice, their diagnosis remains challenging because clinical manifestations are often nonspecific and overlap with other inflammatory and functional GI disorders. Consequently, substantial uncertainties persist regarding diagnostic criteria and clinical relevance of certain histologic patterns. For non-EoE EGIDs, histologic diagnosis is particularly complicated by wide regional variation in normal eosinophil densities, the lack of universally accepted diagnostic cutoffs in adults, and limited correlation between tissue eosinophil burden and symptom severity. In mastocytic GI diseases, additional challenges include distinguishing reactive mast cell hyperplasia from clonal mastocytosis and interpreting proposed entities such as mastocytic enterocolitis, whose clinical significance remains controversial. Given these limitations, histopathologic evaluation of GI biopsies plays a central role in disease recognition and classification. This review emphasizes practical aspects of tissue interpretation, including site-specific reference ranges, proposed diagnostic thresholds, characteristic morphologic patterns, ancillary immunohistochemical and molecular studies, and common interpretive pitfalls encountered in routine practice. Recognizing these diseases ultimately requires careful clinicopathologic correlation, integrating histologic findings with clinical, endoscopic, and molecular data. Improved standardization of diagnostic criteria and clearer definition of histologic thresholds remain critical unmet needs for both pathologists and clinicians managing these complex disorders.
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Drug Discovery Landscape
1 orphan drug designation for Primary eosinophilic gastrointestinal disease.
1 orphan drug designation for Primary eosinophilic gastrointestinal disease.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Benralizumab | antibodies | FDA | 2021-11-01 | — | AstraZeneca Pharmaceuticals LP |
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