Institutional Registry of Rare Diseases

Hospital Italiano de Buenos Aires380 enrolled

Overview

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.

Rare Diseases (RD) pose a health challenge due to their complexity and low prevalence, generating a burden in terms of morbidity and mortality and costs. The fragmentation of data on these diseases makes it difficult to understand them comprehensively. Therefore, the creation of a macro institutional registry that brings together information on RD would facilitate research in this field. The registries are organized systems of systematic data collection of a large number of patients quickly and efficiently on a particular disease at a given time. The main difficulty of the registries is the guarantee of the quality of their data. The main objectives of the registry are: Understand risk factors and prognosis. Evaluate the diagnostic and therapeutic comparison with current standards. Advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients. Analyze the effectiveness of new therapies. Studying differences between populations. Quickly estimate the morbidity, mortality and resource utilization associated with a disease entity. Examine the course of a disease Formulate novel hypotheses for further prospective studies.

Study Type

OBSERVATIONAL

Enrollment

380

Conditions

Rare Diseases Amyloidosis Sarcoidosis

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Clinical and/or molecular diagnosis of any of the following 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, or Cushing Syndrome. * Must be followed at Hospital Italiano de Buenos Aires. Exclusion Criteria: \- Refusal to participate in the study or in the informed consent process.

Outcomes

Primary Outcomes

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.

Time frame: 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.

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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.