RecruitingNot Applicable

Institutional Registry of Rare Diseases

Argentina380 participantsStarted 2024-07-01

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Overall Survival Rate

Timeframe: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.

Mortality Rate

Timeframe: From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.

Time to First Treatment

Timeframe: From date of diagnosis until the initiation of first treatment, assessed up to 12 months.

Demographic and Epidemiologic Profile

Timeframe: At baseline, assessed at the time of enrollment.

Clinical Characteristics and Disease Progression

Timeframe: From date of enrollment until the end of the study, assessed up to 5 years.

Treatment Modalities Received

Timeframe: From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.

Treatment Response

Timeframe: From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.

Trial details

NCT IDNCT06573723

SponsorHospital Italiano de Buenos Aires

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2034-12-31

Contact for this trial

Maria Lourdes Posadas Martinez, PhD

+54 11 49590200 maria.posadas@hospitalitaliano.org.ar

View on ClinicalTrials.gov More Rare Diseases trials