Amyloidosis, Congenital Adrenal Hyperplasia, Cushing Syndrome, Demyelinating Diseases, Eosinophilic Gastrointestinal Disorders, Gaucher Disease, Hemorrhagic Hereditary Telangiectasia, Hereditary Angioedema, HHT, Hirschsprung Disease, Hypertrophic Cardiomyopathy, Immunoglobulin G4-Related Disease, Inborn Errors of Metabolism, Inflammatory Bowel Diseases, Mastocytosis, Multiple Endocrine Neoplasia, Paraganglioma, Phacomatosis, Pheochromocytoma, Prader-Willi Syndrome, Pulmonary Hypertension, Rare Diseases, Sarcoidosis, Vascular Anomalies, Von Hippel-Lindau Disease, Wilson Disease
Conditions
Keywords
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, Hemorrhagic Hereditary Telangiectasia
Brief 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.
Detailed description
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.
Interventions
None listed
Sponsors
Hospital Italiano de Buenos Aires
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Overall Survival Rate | From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years. | 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. |
| Mortality Rate | From date of enrollment/ diagnosis until the date of death, assessed up to 5 years. | 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 to First Treatment | From date of diagnosis until the initiation of first treatment, assessed up to 12 months. | 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. |
| Demographic and Epidemiologic Profile | At baseline, assessed at the time of enrollment. | 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. |
| Clinical Characteristics and Disease Progression | From date of enrollment until the end of the study, assessed up to 5 years. | 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. |
| Treatment Modalities Received | From the initiation of first treatment until the last recorded intervention, assessed up to 5 years. | Types of treatments received, including medication, surgery, and other therapeutic interventions, will be recorded for each participant. Data will be categorized by treatment type. |
| Treatment Response | From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years. | 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. |
| Incidence of Treatment-Related Adverse Events | From the initiation of treatment until 12 months after the last dose, assessed up to 5 years. | 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. |
Countries
Argentina
Contacts
Primary ContactMaria Lourdes Posadas Martinez, PhD
Backup ContactPaula Scibona, MD
Outcome results
None listed