Institutional Registry of Rare Diseases
NCT Number: NCT06573723
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Rare Diseases|Amyloidosis|Sarcoidosis|Phacomatosis|Pheochromocytoma|Paraganglioma|Von Hippel-Lindau Disease|Immunoglobulin G4-Related Disease|Demyelinating Diseases|Inborn Errors of Metabolism|Eosinophilic Gastrointestinal Disorders|Hypertrophic Cardiomyopathy|Gaucher Disease|Congenital Adrenal Hyperplasia|Hereditary Angioedema|Pulmonary Hypertension|Wilson Disease|Vascular Anomalies|Mastocytosis|Multiple Endocrine Neoplasia|Inflammatory Bowel Diseases|Prader-Willi Syndrome|Hirschsprung Disease|Cushing Syndrome
Sponsor: Hospital Italiano de Buenos Aires
Sex: ALL
Age: CHILD, ADULT, OLDER_ADULT
Enrollment: 380
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-07-01
Completion Date: 2034-12-31
Locations: Hospital Italiano de Buenos Aires, Buenos Aires, C1199ABB, Argentina|Hospital Italiano de Buenos Aires, Buenos Aires, C1199ABB, Argentina|Hospital Italiano de Buenos Aires, Buenos Aires, C1199, Argentina

Summary:
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.

Primary Outcome Measures: Overall Survival Rate, The overall survival rate will be assessed by calculating the time from the date of enrollment/diagnosis until the date of death from any cause or date of last follow up., From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.|Mortality Rate, The mortality rate will be determined by the number of participants who die from any cause during the study period. The data will be reported as the percentage of participants who die within the specified time frame., From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.|Time to First Treatment, The time to first treatment will be measured from the date of diagnosis until the initiation of the first therapeutic intervention. The data will be summarized as the median time in weeks., From date of diagnosis until the initiation of first treatment, assessed up to 12 months.|Demographic and Epidemiologic Profile, Demographic and epidemiologic characteristics, including age, gender, ethnicity, and geographic location, will be described for all participants. The data will be summarized using descriptive statistics., At baseline, assessed at the time of enrollment.|Clinical Characteristics and Disease Progression, Clinical characteristics, including disease stage, comorbidities, and symptoms, will be documented for each participant. Disease progression will be monitored and reported using standardized criteria for each illness., From date of enrollment until the end of the study, assessed up to 5 years.|Treatment Modalities Received, Types of treatments received, including medication, surgery, and other therapeutic interventions, will be recorded for each participant. Data will be categorized by treatment type., From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.|Treatment Response, Response to treatment will be evaluated using standardized response criteria for each illness. The data will be reported as the percentage of participants achieving partial or complete response., From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.|Incidence of Treatment-Related Adverse Events, The incidence of treatment-related adverse events will be recorded and graded according to CTCAE version 5.0. The data will be reported as the number of participants experiencing adverse events by grade., From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.