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Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.
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Investigating Modified Protocols of Oral Immunotherapy to Validate Efficacy and Safety
Protocols for Oral Immunotherapy (OIT) for the main food allergens have been recently incorporated in clinical practice for food allergies and their clinical benefits have been acknowledged in European and Canadian official guidelines. There has been some reluctance in both clinicians and patients to implement these therapies, primarily because of the risk of allergic reactions during the desensitization process. This study will investigate if protocols using low doses of a food allergen or processed versions of the allergen can be both effective in conferring desensitization while inducing fewer allergic symptoms during the desensitization process.
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Local Clinical and Immunological Responses in Eosinophilic Esophagitis (EoE) Patients, Role of Mucosal Barrier Function and Type II Inflammation
Eosinophilic esophagitis (EoE) is an allergic inflammation of the esophagus. If not treated properly, inflammation and narrowing of the esophagus can occur. This can eventually lead to food impaction. Food allergens play an important role in the pathogenesis of EoE, as demonstrated by endoscopic and clinical resolution of EoE once the causative food is removed from the diet and exacerbation when the same food is reintroduced Similarly, amino acid-based elemental diets are effective in both adults and children with EoE. However, the exact mechanism by which food allergens can initiate inflammation in EoE is still unknown, as there are limited data on the early local esophageal...
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Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE
This is a Phase 3, multicenter, long-term, open-label study to evaluate the safety and efficacy of once-daily orally administered deucrictibant extended-release tablet for prophylaxis to prevent angioedema attacks in participants aged ≥12 years with Hereditary Angioedema
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LYell SYndrome MEsenchymal Stromal Cells Treatment
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions (SCARs) to drugs. To date, no curative drug has demonstrated with a good level of evidence its ability to promote SJS and TEN healing and could contribute to earlier reepithelialisation. Mesenchymal stroma cells (MSCs) therapy represents a new therapeutic approach. eg, in patients with cardiovascular diseases, neurological diseases, renal transplantation, lung diseases as acute respiratory distress syndrome. Recently, MSCs have been proposed in both burn wound healing with a significantly decrease of the unhealed burn area and in cutaneous radiation. Moreover,...
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Michigan Food and Atopic Dermatitis (M-FAD) Program - Molecular Analytics Project
This study will explore potential links between atopic dermatitis and food allergy. This information will be useful to determine atopic dermatitis and food allergy share unique biochemical or genetic identifiers useful for diagnosing and treatments in the future. This is a mechanistic study consisting of obtaining blood and skin samples from participants at baseline. Individuals may also undergo a clinically indicated oral food challenge and have blood and skin samples collected at various times during the oral food challenge. This study will create a molecular map of the pathology of atopic dermatitis and food allergy. This information will be deployed to evaluate the hypothesis...
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Mother-Infant Cohort Study in Malaysia and China
This mother-infant cohort study aims to determine the geographic differences in the microbial profiles in breast milk from mothers living in Malaysia and China that are potentially important determinants of infant development. It also aims to determine the impact of gut microbiome on infant health (temperament, gastrointestinal symptoms, eczema symptoms, and asthma symptoms).
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Mucosal IgE to Improve Diagnosis of Food Allergy and Food Hypersensitivity
Aim of the study is to improve the diagnosis of food allergy and hypersensitivity. Intestinal homogenates will be used to determine total IgE, specific IgE, tryptase, histamine and inflammation parameters (IFNgamma, TNFalpha). These data will be correlated with serum values and disease status. In addition, organoids from duodenal tissue will be isolated and cultured in vitro and stimulated with the major food allergens. The gene and protein expression will be checked to identify relevant biomarkers.
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National, Multicenter, Retrospective, Prospective Study to Evaluate Pediatric Gastrointestinal Eosinophilic Disorders
Eosinophilic gastrointestinal disorders (EGIDs) are a heterogeneous group of emerging chronic inflammatory diseases that may affect different gastrointestinal (GI) tracts. Based on the anatomical site involved, EGIDs are distinguished into eosinophilic esophagitis (EoE) and non-esophageal forms, which are subdivided into eosinophilic gastritis (EoG), gastroenteritis (EoGE), and colitis (EoC). EoE is considered the prototype of EGIDs. Since the first description of a case series of patients with EoE, fundamental scientific advances have been achieved, culminating in the redaction of international diagnostic and therapeutic guidelines. In contrast to EoE, non-esophageal forms of...
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Natural History and Genetics of Food Allergy and Related Conditions
Background: - About 15 million Americans have a food allergy. Because there are no cures or effective prevention or treatment for food allergies, researchers want to learn more about them. Objective: - To learn more about the causes and effects of food allergy and related conditions. Eligibility: - People ages 2 99 who have food allergy and/or a related genetic or other condition - Their relatives - Healthy relatives and volunteers Design: - Participants will have at least 3 visits over 1 2 years, and then once a year for up to 12 years. Each may last a day or longer. - Participants will be screened with medical history, physical exam,...
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