Clinical Research Directory

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.

Umbilical Cord Blood Therapy in a Child With Eosinophilic Duodenitis and Autism Spectrum Disorder: a Case Study

This single-case exploratory clinical study aims to evaluate the therapeutic potential of umbilical cord blood (UCB) infusion in a pediatric patient diagnosed with both eosinophilic duodenitis (ED) and autism spectrum disorder (ASD). ED is a rare inflammatory gastrointestinal condition characterized by excessive eosinophil infiltration in the duodenal mucosa, often associated with immune hypersensitivity and allergic responses. ASD is a neurodevelopmental disorder marked by deficits in social interaction, communication, and behavioral flexibility. Recent evidence suggests a link between gastrointestinal inflammation and neurodevelopmental symptoms via the gut-brain axis, especially in patients with co-occurring ASD and eosinophilic gastrointestinal disorders (EGIDs). In this study, the patient will receive three UCB infusions: one autologous and two allogeneic. The first (autologous) UCB is stored at a certified cord blood bank and will be administered intravenously. Subsequently, two allogeneic UCB infusions will be administered six weeks apart using HLA-matched donor units selected from a hospital-based cord blood repository. The cell product will contain a minimum of 3 × 10⁷ total nucleated cells per kg, and donor-recipient compatibility for HLA A, B, and DRB1 will be considered. To support immune tolerance and reduce potential adverse responses, a 7-day course of low-dose oral cyclosporine will be administered with each allogeneic infusion. All cord blood handling, thawing, and infusion will be performed in a cell therapy center under standardized protocols. The primary aim is to explore the immune regulatory effects and symptom relief following UCB therapy in this rare comorbid case. Assessments will include brain MRI with DTI, EEG, fNIRS, sensory profiles (SP), social communication questionnaires (SCQ), autism rating scales (K-CARS-2), behavioral checklists (CBCL), gastrointestinal endoscopy, and developmental/cognitive/language assessments (e.g., WISC, WPPSI, GMFM, VMI, SELSI, PRES, FIM). Blood samples will be analyzed for eosinophil counts and gene/protein expression related to inflammation, neuroendocrine function, and gut-brain signaling (e.g., TNF-α, IL-6, serotonin, dopamine, GABA, CRH, BDNF). This case study will also track safety indicators including vital signs, laboratory panels, and adverse events. The data may inform the feasibility of future therapeutic use of UCB in children with complex immune-neurodevelopmental conditions.

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 EGIDs are still a clinical enigma with evidence limited to a few retrospective studies. In the last decade, an increase in the prevalence of EGIDs has been observed in the pediatric age. Unfortunately, the epidemiology of EGIDs in Italy is still inconsistent and clear estimates are not available. Firstly, this study will allow us to assess and clarify several clinical and epidemiological aspects of pediatric EGIDs, in particular: 1. prevalence and incidence of pediatric EGIDs in Italy, 2. the clinical features and potential phenotypes of pediatric EGIDs with potential impact on therapy and management, 3. diagnostic work-up and adherence to the EoE international guidelines to improve the management, quality of care, and quality of life of affected patients. This study has no ethical problems since EoE patients are treated according to international guidelines and those with non-esophageal EGIDs according to the latest scientific evidence.