Registry for Rare Diseases
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 380 (estimated) |
| Sex | All |
| Sponsor | Hospital Italiano de Buenos Aires Academic / other |
| Locations | 1 site (Buenos Aires, Buenos Aires) |
| Trial ID | NCT06573723 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a comprehensive registry that collects data on various rare diseases, including amyloidosis and sarcoidosis. By consolidating clinical features and patient-reported outcomes, the registry seeks to enhance understanding of these conditions and improve diagnosis and treatment patterns. The study will utilize electronic medical records to identify potential cases and analyze the effectiveness of existing therapies. Ultimately, it aims to facilitate research and generate hypotheses for future studies.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical or molecular diagnosis of specific rare diseases who are being treated at Hospital Italiano de Buenos Aires.
Not a fit: Patients who do not have a diagnosis of the specified rare diseases or who refuse to participate will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could lead to improved diagnosis, treatment, and management of rare diseases.
How similar studies have performed: Other studies have successfully utilized registries to improve understanding and treatment of rare diseases, indicating that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Buenos Aires, Buenos Aires
- Hospital Italiano de Buenos Aires — Buenos Aires, Buenos Aires, Argentina (Recruiting)
Study contacts
- Principal investigator: Marcelo Serra, PhD — Hiba
- Study coordinator: Maria Lourdes Posadas Martinez, PhD
- Email: maria.posadas@hospitalitaliano.org.ar
- Phone: +54 11 49590200
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.