Clinical trial NCT06573723: Institutional Registry of Rare Diseases
Official title: Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Keywords: 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
Lead sponsor: Hospital Italiano de Buenos Aires
Sponsor class: OTHER
First posted: 2024-08-27
Enrollment: 380
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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.

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.

Primary outcomes:
measure: Overall Survival Rate
timeFrame: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.
measure: Mortality Rate
timeFrame: From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.
measure: Time to First Treatment
timeFrame: From date of diagnosis until the initiation of first treatment, assessed up to 12 months.
measure: Demographic and Epidemiologic Profile
timeFrame: At baseline, assessed at the time of enrollment.
measure: Clinical Characteristics and Disease Progression
timeFrame: From date of enrollment until the end of the study, assessed up to 5 years.
measure: Treatment Modalities Received
timeFrame: From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.
measure: Treatment Response
timeFrame: From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.
measure: Incidence of Treatment-Related Adverse Events
timeFrame: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.
Secondary outcomes:
Other outcomes:
Locations:
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
Study officials:
affiliation: HIBA
name: Marcelo Serra, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: HIBA
name: Soledad Kleppe, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: HIBA
name: Maria Lourdes Posadas Martinez, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: HIBA - dermatología
name: Luis Mazzuoccolo, MD
role: STUDY_CHAIR
affiliation: HIBA - endocrinología
name: María Fabiana Russo Picasso, MD
role: STUDY_CHAIR
affiliation: HIBA - oftalmología
name: Eduardo Jorge Premoli, MD
role: STUDY_CHAIR
affiliation: HIBA - gastroenterología
name: Mariano Martín Marcolongo, MD
role: STUDY_CHAIR
affiliation: HIBA - clínica médica
name: Javier Pollan, MD
role: STUDY_CHAIR
affiliation: HIBA - investigación
name: Adrian Gadano, MD
role: STUDY_CHAIR
affiliation: HIBA - cirugía pediátrica
name: Pablo Lobos, MD
role: STUDY_CHAIR
affiliation: HIBA - patología clínica
name: Hernan Garcia Rivello, MD
role: STUDY_CHAIR
affiliation: IMTIB
name: Marcelo Risk, PhD
role: STUDY_CHAIR
affiliation: HIBA - neurología
name: Marcelo Rugiero, MD
role: STUDY_CHAIR
affiliation: HIBA - clínica pediátrica
name: Julio Busaniche, MD
role: STUDY_CHAIR
affiliation: HIBA - cardiología
name: Rodolfo Pizarro, MD
role: STUDY_CHAIR
References:
citation: 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.
citation: 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.
citation: 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/