ClinicalTrials.gov record NCT06573723

Institutional Registry of Rare Diseases

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationArgentina
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational registry that collects clinical and patient-reported data on many rare diseases. It is for people of any age with a confirmed rare disease who are followed at Hospital Italiano de Buenos Aires. The study will build a centralized database, explore disease occurrence and characteristics, develop an electronic alert system for possible cases, and track outcomes over time.

What it is studying. The study aims to create a single institutional registry to gather and organize clinical information on many rare diseases; develop an electronic medical-record alert system for possible cases; describe how often these diseases occur and how patients are diagnosed and treated; characterize clinical features and disease course; and explore patient-reported outcomes.

What the researchers hope to learn. Scientific goals include understanding risk factors and prognosis, describing demographic and clinical profiles, comparing diagnostic and treatment patterns with standards, estimating morbidity and mortality, analyzing resource use, studying differences between populations, and generating hypotheses for future research.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give informed consent and allow researchers to collect and store clinical and diagnostic information from their medical record into the institutional rare-disease registry. Study staff will track outcomes such as survival, treatments received, disease progression, and treatment-related adverse events over time (some outcomes are assessed up to 5 years; the registry has a target duration of 10 years). You may be asked to complete patient-reported outcome questionnaires. The registry record does not list any special invasive study procedures.

How the study is structured. An observational, cohort-style registry. The study collects existing and ongoing clinical data from medical records and patient reports, stores them in a central database, and follows participants over time (target duration 10 years). No experimental treatments are assigned by the study.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Argentina. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on IgG4-related disease

This trial is also listed on this site under congenital adrenal hyperplasia, Gaucher disease and Prader-Willi syndrome.

Clinical trials32 trials listed for IgG4-related diseaseEvery trial the registry lists for IgG4-related disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in IgG4-related disease researchLatest monthly update: September 2026. Includes: Relapse prevention trial. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 1, 2024
Primary completion
Dec 31, 2034 (estimated)
Study completion
Dec 31, 2034 (estimated)
Target enrollment
380 participants (estimated)
Last updated on registry
Jan 14, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Hospital Italiano de Buenos Aires
Principal investigator
MARIA LOURDES POSADAS MARTINEZ, Principal Investigator
Hospital Italiano de Buenos Aires

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • Hospital Italiano de Buenos AiresRecruiting

    Buenos Aires, Buenos Aires, C1199ABB · Argentina

    • Ana Braslavsky, MD · +54 11 49590200 ext. 4419 · ana.braslavsky@hospitalitaliano.org.ar
    • Maria Lourdes Posadas Martinez, PhD · +54 11 49590200 ext. 4419 · ana.braslavsky@hospitalitaliano.org.ar
    • Adela Aguirre, PhD
    • Emiliano Rossi, MD
    • Magalí Squitín Tasende, MD
    • Javier Muntadas, MD
    • Martín Hyland, MD
    • Mauricio Valiere Giménez, MD
    • Valeria de Miguel, MD
    • Ernestina Angarola, MD
    • Jimena Miguez, MD
    • Lucia Varela, MD
    • Mónica Schpilberg, MD
    • Marcelina Carretero, MD
    • Ana Clara Roa, MD
    • Marcela Alejandra Martínez von Scheidt, MD
    • Julieta Argüero, MD
    • Rocío Blanco, MD
    • Marina Scolnik, MD
    • Jimena Vicens, MD
    • Adriana Dawidowski, MD
    • Franco Faelo, MD
    • Silvia Christiansen, MD
    • Julieta Pandolfi, MD
    • Andrea Paissan, MD
    • María Belén Bosco, MD
    • Silvina Dell'Era, Lic
    • Claudio Parisi, MD
    • Carolina Laura Azcona, MD
    • Carla Ritchie, MD
    • Romina Cajal, Lic
    • Lucas Aparicio, MD
    • Ignacio Bluro, MD
    • Lucia Pérez, MD
    • RocÍo Celeste Moreno, MD
    • Julia Udaquiola, MD
    • Lucrecia Bustamante, MD
    • Silvana Filippi, Lic
    • Agustina Saladino
    • Patricia Fainstein Day, MD
    • María Fabiana Russo Picasso, MD
    • Guadalupe Geli, MD
    • María Lorena Viale, Lic
    • Mirena Buttazzoni, MD
    • Leandro Agustín Fanjul Regueria, MD
    • María Diehl, MD
    • María Natalia Aliquó, MD
    • Guillermo Francisco Alonso, MD
    • Betiana Mabel Pérez, MD
    • Mercedes Juarez Araoz, MD
    • Pablo Andrés Lobos, MD
    • Patricio Aitor García Marchiñena, MD
    • Ana Braslavsky, MD
    • María Pía Serra, Lic

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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