Clinical research for rare disease: opportunities, challenges, and solutions.
Robert C Griggs, Mark Batshaw, Mary Dunkle...
https://pubmed.ncbi.nlm.nih.gov/19013090Actively Recruiting
All Genders
ID06573723
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
Led by Hospital Italiano de Buenos Aires · Updated on 2026-01-14
380
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Brief Title
Institutional Registry of Rare Diseases
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- 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.
You will not qualify if you...
- Refusal to participate in the study or in the informed consent process.
AI-Screening
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1
2
3
Trial Site Locations
Total: 1 location
1
Hospital Italiano de Buenos Aires
Buenos Aires, Buenos Aires, Argentina, C1199ABB
Actively Recruiting
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Research Team
M
Maria Lourdes Posadas Martinez, PhD
P
Paula Scibona, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
The Challenge of Rare Diseases.
James K Stoller
https://pubmed.ncbi.nlm.nih.gov/29325986