Clinical trial · Observational
Institutional Registry of Rare Diseases
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
NCT06573723CI-TRIAL-00100871recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (26)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Amyloidosis | Amyloidosis | ONTOLOGY_EXACT | 0.98 |
| Congenital Adrenal Hyperplasia | — | UNRESOLVED | — |
| Cushing Syndrome | — | UNRESOLVED | — |
| Demyelinating Diseases | — | UNRESOLVED | — |
| Eosinophilic Gastrointestinal Disorders | — | UNRESOLVED | — |
| Gaucher Disease | — | UNRESOLVED | — |
| Hemorrhagic Hereditary Telangiectasia | — | UNRESOLVED | — |
| Hereditary Angioedema | — | UNRESOLVED | — |
| HHT | — | UNRESOLVED | — |
| Hirschsprung Disease | — | UNRESOLVED | — |
| Hypertrophic Cardiomyopathy | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (8)
- measure
- Overall Survival Rate
- timeFrame
- From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.
- description
- 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.
- measure
- Mortality Rate
- timeFrame
- From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.
- description
- 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.
- measure
- Time to First Treatment
- timeFrame
- From date of diagnosis until the initiation of first treatment, assessed up to 12 months.
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (3)
- BACKGROUNDGriggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13. PMID 19013090
- BACKGROUNDStoller JK. The Challenge of Rare Diseases. Chest. 2018 Jun;153(6):1309-1314. doi: 10.1016/j.chest.2017.12.018. Epub 2018 Jan 8. PMID 29325986
- BACKGROUNDGliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient Outcomes: A User's Guide [Internet]. 3rd edition. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13(14)-EHC111. Available from http://www.ncbi.nlm.nih.gov/books/NBK208616/ PMID 24945055