Institutional Registry of Rare Diseases

January 12, 2026 updated by: MARIA LOURDES POSADAS MARTINEZ, Hospital Italiano de Buenos Aires

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

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

380

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Argentina
    • Buenos Aires
      • Buenos Aires, Buenos Aires, Argentina, C1199ABB
        • Recruiting
        • Hospital Italiano de Buenos Aires
        • Contact:
        • Contact:
        • Sub-Investigator:
          • Adela Aguirre, PhD
        • Sub-Investigator:
          • Emiliano Rossi, MD
        • Sub-Investigator:
          • Magalí Squitín Tasende, MD
        • Sub-Investigator:
          • Javier Muntadas, MD
        • Sub-Investigator:
          • Martín Hyland, MD
        • Sub-Investigator:
          • Mauricio Valiere Giménez, MD
        • Sub-Investigator:
          • Valeria de Miguel, MD
        • Sub-Investigator:
          • Ernestina Angarola, MD
        • Sub-Investigator:
          • Jimena Miguez, MD
        • Sub-Investigator:
          • Lucia Varela, MD
        • Sub-Investigator:
          • Mónica Schpilberg, MD
        • Sub-Investigator:
          • Marcelina Carretero, MD
        • Sub-Investigator:
          • Ana Clara Roa, MD
        • Sub-Investigator:
          • Marcela Alejandra Martínez von Scheidt, MD
        • Sub-Investigator:
          • Julieta Argüero, MD
        • Sub-Investigator:
          • Rocío Blanco, MD
        • Sub-Investigator:
          • Marina Scolnik, MD
        • Sub-Investigator:
          • Jimena Vicens, MD
        • Sub-Investigator:
          • Adriana Dawidowski, MD
        • Sub-Investigator:
          • Franco Faelo, MD
        • Sub-Investigator:
          • Silvia Christiansen, MD
        • Sub-Investigator:
          • Julieta Pandolfi, MD
        • Sub-Investigator:
          • Andrea Paissan, MD
        • Sub-Investigator:
          • María Belén Bosco, MD
        • Sub-Investigator:
          • Silvina Dell'Era, Lic
        • Sub-Investigator:
          • Claudio Parisi, MD
        • Sub-Investigator:
          • Carolina Laura Azcona, MD
        • Sub-Investigator:
          • Carla Ritchie, MD
        • Sub-Investigator:
          • Romina Cajal, Lic
        • Sub-Investigator:
          • Lucas Aparicio, MD
        • Sub-Investigator:
          • Ignacio Bluro, MD
        • Sub-Investigator:
          • Lucia Pérez, MD
        • Sub-Investigator:
          • RocÍo Celeste Moreno, MD
        • Sub-Investigator:
          • Julia Udaquiola, MD
        • Sub-Investigator:
          • Lucrecia Bustamante, MD
        • Sub-Investigator:
          • Silvana Filippi, Lic
        • Sub-Investigator:
          • Agustina Saladino
        • Sub-Investigator:
          • Patricia Fainstein Day, MD
        • Sub-Investigator:
          • María Fabiana Russo Picasso, MD
        • Sub-Investigator:
          • Guadalupe Geli, MD
        • Sub-Investigator:
          • María Lorena Viale, Lic
        • Sub-Investigator:
          • Mirena Buttazzoni, MD
        • Sub-Investigator:
          • Leandro Agustín Fanjul Regueria, MD
        • Sub-Investigator:
          • María Diehl, MD
        • Sub-Investigator:
          • María Natalia Aliquó, MD
        • Sub-Investigator:
          • Guillermo Francisco Alonso, MD
        • Sub-Investigator:
          • Betiana Mabel Pérez, MD
        • Sub-Investigator:
          • Mercedes Juarez Araoz, MD
        • Sub-Investigator:
          • Pablo Andrés Lobos, MD
        • Sub-Investigator:
          • Patricio Aitor García Marchiñena, MD
        • Sub-Investigator:
          • Ana Braslavsky, MD
        • Sub-Investigator:
          • María Pía Serra, Lic

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

People of any age, with a confirmed diagnosis of one or more rare diseases and followed up at Hospital Italiano de Buenos Aires, categorized as such according to the Orpha code from the List of Rare Diseases of the Ministry of Health of the Nation.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Overall Survival Rate
Time Frame: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.
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.
From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.
Mortality Rate
Time Frame: From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.
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.
From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.
Time to First Treatment
Time Frame: From date of diagnosis until the initiation of first treatment, assessed up to 12 months.
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.
From date of diagnosis until the initiation of first treatment, assessed up to 12 months.
Demographic and Epidemiologic Profile
Time Frame: At baseline, assessed at the time of enrollment.
Demographic and epidemiologic characteristics, including age, gender, ethnicity, and geographic location, will be described for all participants. The data will be summarized using descriptive statistics.
At baseline, assessed at the time of enrollment.
Clinical Characteristics and Disease Progression
Time Frame: From date of enrollment until the end of the study, assessed up to 5 years.
Clinical characteristics, including disease stage, comorbidities, and symptoms, will be documented for each participant. Disease progression will be monitored and reported using standardized criteria for each illness.
From date of enrollment until the end of the study, assessed up to 5 years.
Treatment Modalities Received
Time Frame: From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.
Types of treatments received, including medication, surgery, and other therapeutic interventions, will be recorded for each participant. Data will be categorized by treatment type.
From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.
Treatment Response
Time Frame: From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.
Response to treatment will be evaluated using standardized response criteria for each illness. The data will be reported as the percentage of participants achieving partial or complete response.
From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.
Incidence of Treatment-Related Adverse Events
Time Frame: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.
The incidence of treatment-related adverse events will be recorded and graded according to CTCAE version 5.0. The data will be reported as the number of participants experiencing adverse events by grade.
From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Italiano de Buenos Aires

Investigators

  • Principal Investigator: Marcelo Serra, PhD, HIBA
  • Principal Investigator: Soledad Kleppe, MD, HIBA
  • Principal Investigator: Maria Lourdes Posadas Martinez, PhD, HIBA
  • Study Chair: Luis Mazzuoccolo, MD, HIBA - dermatología
  • Study Chair: María Fabiana Russo Picasso, MD, HIBA - endocrinología
  • Study Chair: Eduardo Jorge Premoli, MD, HIBA - oftalmología
  • Study Chair: Mariano Martín Marcolongo, MD, HIBA - gastroenterología
  • Study Chair: Javier Pollan, MD, HIBA - clínica médica
  • Study Chair: Adrian Gadano, MD, HIBA - investigación
  • Study Chair: Pablo Lobos, MD, HIBA - cirugía pediátrica
  • Study Chair: Hernan Garcia Rivello, MD, HIBA - patología clínica
  • Study Chair: Marcelo Risk, PhD, IMTIB
  • Study Chair: Marcelo Rugiero, MD, HIBA - neurología
  • Study Chair: Julio Busaniche, MD, HIBA - clínica pediátrica
  • Study Chair: Rodolfo Pizarro, MD, HIBA - cardiología

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2024

Primary Completion (Estimated)

December 31, 2034

Study Completion (Estimated)

December 31, 2034

Study Registration Dates

First Submitted

August 6, 2024

First Submitted That Met QC Criteria

August 23, 2024

First Posted (Actual)

August 27, 2024

Study Record Updates

Last Update Posted (Estimated)

January 14, 2026

Last Update Submitted That Met QC Criteria

January 12, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 7014
  • 12332 (Registry Identifier: PRIISA)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

There is a plan to make individual participant data (IPD) available to other researchers by contacting the IP (María Lourdes Posadas Martínez, Soledad Kleppe, Marcelo Martín Serra) with a letter of intent on the protocol to be carried out. If you agree, the protocol will be presented to the ethics committee and work will be carried out in accordance with current regulations.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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