Skip to main content
OpenTrials
Recruiting

NCT Number: NCT06573723

Institutional Registry of Rare Diseases

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Rare Diseases Abnormalities, Multiple Adrenal Gland Diseases Adrenal Hyperplasia, Congenital Adrenocortical Hyperfunction Adrenogenital Syndrome Amyloidosis Angioedema Angioedemas, Hereditary Angiomatosis Aortic Stenosis, Subvalvular Aortic Valve Disease Aortic Valve Stenosis Autoimmune Diseases Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiomyopathies Cardiomyopathy, Hypertrophic Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Chromosome Disorders Ciliopathies Colonic Diseases Congenital Abnormalities Congenital Adrenal Hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cushing Syndrome Demyelinating Diseases Digestive System Abnormalities Digestive System Diseases Disease Attributes Disorders of Sex Development Ectodermal Dysplasia Endocrine Gland Neoplasms Endocrine System Diseases Eosinophilia Eosinophilic Esophagitis Eosinophilic Gastrointestinal Disorders Esophageal Diseases Esophagitis Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Gastroenteritis Gastrointestinal Diseases Gaucher Disease Genetic Diseases, Inborn Gonadal Disorders HHT Heart Diseases Heart Valve Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemorrhagic Hereditary Telangiectasia Hemostatic Disorders Hepatolenticular Degeneration Hereditary Angioedema Hereditary Complement Deficiency Diseases Heredodegenerative Disorders, Nervous System Hirschsprung Disease Hypersensitivity Hypersensitivity, Delayed Hypersensitivity, Immediate Hypertension Hypertension, Pulmonary Hypertrophic Cardiomyopathy Immune System Diseases Immunoglobulin G4-Related Disease Immunologic Deficiency Syndromes Imprinting Disorders Inborn Errors of Metabolism Inflammatory Bowel Diseases Intellectual Disability Intestinal Diseases Leukocyte Disorders Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Liver Diseases Lung Diseases Lymphatic Diseases Lymphoproliferative Disorders Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Male Urogenital Diseases Mast Cell Activation Disorders Mastocytosis Megacolon Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Multiple Endocrine Neoplasia Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Neoplasms, Germ Cell and Embryonal Neoplasms, Multiple Primary Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nervous System Diseases Neurobehavioral Manifestations Neurocutaneous Syndromes Neurodegenerative Diseases Neuroectodermal Tumors Neuroendocrine Tumors Neurologic Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Paraganglioma Pathologic Processes Pathological Conditions, Signs and Symptoms Phacomatosis Pheochromocytoma Prader-Willi Syndrome Primary Immunodeficiency Diseases Proteostasis Deficiencies Pulmonary Hypertension Respiratory Tract Diseases Sarcoidosis Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vascular Skin and Connective Tissue Diseases Sphingolipidoses Steroid Metabolism, Inborn Errors Telangiectasia, Hereditary Hemorrhagic Telangiectasis Urogenital Abnormalities Urogenital Diseases Urticaria Vascular Anomalies Vascular Diseases Vascular Malformations Von Hippel-Lindau Disease Wilson Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Italiano de Buenos Aires

Buenos Aires, C1199ABB, Argentina

Location status: Recruiting

Location contact

Adela Aguirre, PhD

SUB_INVESTIGATOR

Adriana Dawidowski, MD

SUB_INVESTIGATOR

Agustina Saladino

SUB_INVESTIGATOR

Ana Braslavsky, MD

CONTACT

[email protected]

+54 11 49590200 ext. 4419

Ana Braslavsky, MD

SUB_INVESTIGATOR

Ana Clara Roa, MD

SUB_INVESTIGATOR

Andrea Paissan, MD

SUB_INVESTIGATOR

Betiana Mabel Pérez, MD

SUB_INVESTIGATOR

Carla Ritchie, MD

SUB_INVESTIGATOR

Carolina Laura Azcona, MD

SUB_INVESTIGATOR

Claudio Parisi, MD

SUB_INVESTIGATOR

Emiliano Rossi, MD

SUB_INVESTIGATOR

Ernestina Angarola, MD

SUB_INVESTIGATOR

Franco Faelo, MD

SUB_INVESTIGATOR

Guadalupe Geli, MD

SUB_INVESTIGATOR

Guillermo Francisco Alonso, MD

SUB_INVESTIGATOR

Ignacio Bluro, MD

SUB_INVESTIGATOR

Javier Muntadas, MD

SUB_INVESTIGATOR

Jimena Miguez, MD

SUB_INVESTIGATOR

Jimena Vicens, MD

SUB_INVESTIGATOR

Julia Udaquiola, MD

SUB_INVESTIGATOR

Julieta Argüero, MD

SUB_INVESTIGATOR

Julieta Pandolfi, MD

SUB_INVESTIGATOR

Leandro Agustín Fanjul Regueria, MD

SUB_INVESTIGATOR

Lucas Aparicio, MD

SUB_INVESTIGATOR

Lucia Pérez, MD

SUB_INVESTIGATOR

Lucia Varela, MD

SUB_INVESTIGATOR

Lucrecia Bustamante, MD

SUB_INVESTIGATOR

Magalí Squitín Tasende, MD

SUB_INVESTIGATOR

Marcela Alejandra Martínez von Scheidt, MD

SUB_INVESTIGATOR

Marcelina Carretero, MD

SUB_INVESTIGATOR

Maria Lourdes Posadas Martinez, PhD

CONTACT

[email protected]

+54 11 49590200 ext. 4419

Marina Scolnik, MD

SUB_INVESTIGATOR

Martín Hyland, MD

SUB_INVESTIGATOR

María Belén Bosco, MD

SUB_INVESTIGATOR

María Diehl, MD

SUB_INVESTIGATOR

María Fabiana Russo Picasso, MD

SUB_INVESTIGATOR

María Lorena Viale, Lic

SUB_INVESTIGATOR

María Natalia Aliquó, MD

SUB_INVESTIGATOR

María Pía Serra, Lic

SUB_INVESTIGATOR

Mauricio Valiere Giménez, MD

SUB_INVESTIGATOR

Mercedes Juarez Araoz, MD

SUB_INVESTIGATOR

Mirena Buttazzoni, MD

SUB_INVESTIGATOR

Mónica Schpilberg, MD

SUB_INVESTIGATOR

Pablo Andrés Lobos, MD

SUB_INVESTIGATOR

Patricia Fainstein Day, MD

SUB_INVESTIGATOR

Patricio Aitor García Marchiñena, MD

SUB_INVESTIGATOR

RocÍo Celeste Moreno, MD

SUB_INVESTIGATOR

Rocío Blanco, MD

SUB_INVESTIGATOR

Romina Cajal, Lic

SUB_INVESTIGATOR

Silvana Filippi, Lic

SUB_INVESTIGATOR

Silvia Christiansen, MD

SUB_INVESTIGATOR

Silvina Dell'Era, Lic

SUB_INVESTIGATOR

Valeria de Miguel, MD

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Maria Lourdes Posadas Martinez, PhD

CONTACT

[email protected]

+54 11 49590200 ext. 4419

Paula Scibona, MD

CONTACT

[email protected]

+54 11 49590200 ext. 8425

Sponsors and collaborators

Lead sponsor

Hospital Italiano de Buenos Aires

Other

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2034
Study completion
2034
First posted
Aug 27, 2024
Registry last updated
Jan 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.