Institutional Registry of Rare Diseases

NCT ID: NCT06573723

Last Updated: 2026-01-14

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 380 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-07-01
• Study Completion Date: 2034-12-31

Brief 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.

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.

Conditions

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; Cushing Syndrome; HHT; Hemorrhagic Hereditary Telangiectasia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Eligibility 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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospital Italiano de Buenos Aires

OTHER

Sponsor Role: lead

Responsible Party

MARIA LOURDES POSADAS MARTINEZ

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Marcelo Serra, PhD

Role: PRINCIPAL_INVESTIGATOR

HIBA

Soledad Kleppe, MD

Role: PRINCIPAL_INVESTIGATOR

HIBA

Maria Lourdes Posadas Martinez, PhD

Role: PRINCIPAL_INVESTIGATOR

HIBA

Luis Mazzuoccolo, MD

Role: STUDY_CHAIR

HIBA - dermatología

María Fabiana Russo Picasso, MD

Role: STUDY_CHAIR

HIBA - endocrinología

Eduardo Jorge Premoli, MD

Role: STUDY_CHAIR

HIBA - oftalmología

Mariano Martín Marcolongo, MD

Role: STUDY_CHAIR

HIBA - gastroenterología

Javier Pollan, MD

Role: STUDY_CHAIR

HIBA - clínica médica

Adrian Gadano, MD

Role: STUDY_CHAIR

HIBA - investigación

Pablo Lobos, MD

Role: STUDY_CHAIR

HIBA - cirugía pediátrica

Hernan Garcia Rivello, MD

Role: STUDY_CHAIR

HIBA - patología clínica

Marcelo Risk, PhD

Role: STUDY_CHAIR

IMTIB

Marcelo Rugiero, MD

Role: STUDY_CHAIR

HIBA - neurología

Julio Busaniche, MD

Role: STUDY_CHAIR

HIBA - clínica pediátrica

Rodolfo Pizarro, MD

Role: STUDY_CHAIR

HIBA - cardiología

Locations

Hospital Italiano de Buenos Aires

Buenos Aires, Buenos Aires, Argentina

Site Status: RECRUITING

Countries

Argentina

Central Contacts

Maria Lourdes Posadas Martinez, PhD

Role: CONTACT

maria.posadas@hospitalitaliano.org.ar

+54 11 49590200 ext. 4419

Paula Scibona, MD

Role: CONTACT

cepi@hospitalitaliano.org.ar

+54 11 49590200 ext. 8425

Facility Contacts

Ana Braslavsky, MD

Role: primary

ana.braslavsky@hospitalitaliano.org.ar

+54 11 49590200 ext. 4419

Maria Lourdes Posadas Martinez, PhD

Role: backup

ana.braslavsky@hospitalitaliano.org.ar

+54 11 49590200 ext. 4419

References

Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.

Reference Type: BACKGROUND

PMID: 19013090 (View on PubMed)

Stoller JK. The Challenge of Rare Diseases. Chest. 2018 Jun;153(6):1309-1314. doi: 10.1016/j.chest.2017.12.018. Epub 2018 Jan 8.

Reference Type: BACKGROUND

PMID: 29325986 (View on PubMed)

Gliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient Outcomes: A User's Guide [Internet]. 3rd edition. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13(14)-EHC111. Available from http://www.ncbi.nlm.nih.gov/books/NBK208616/

Reference Type: BACKGROUND

PMID: 24945055 (View on PubMed)

Other Identifiers

12332

Identifier Type: REGISTRY

Identifier Source: secondary_id

7014

Identifier Type: -

Identifier Source: org_study_id