Institutional Registry of Rare Diseases

NCT06573723 | Recruiting

• 2 other identifiers: 701412332
• Study Type: observational
• Target: 380
• Locations: 1 country
• Sites: 1

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.

Conditions

Hemorrhagic Hereditary Telangiectasia; 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

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; Hemorrhagic Hereditary Telangiectasia

Outcome Measures

Primary Outcomes (8)

• Overall Survival Rate

  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

  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

  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

  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

  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

  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

  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

  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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• \- Refusal to participate in the study or in the informed consent process.

Sponsors & Collaborators

• Hospital Italiano de Buenos Aires: lead

Study Sites (1)

Hospital Italiano de Buenos Aires

Buenos Aires, Buenos Aires, C1199ABB, Argentina

RECRUITING

Related Publications (3)

• 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.

  PMID: 19013090 BACKGROUND

• 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.

  PMID: 29325986 BACKGROUND

• 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/

  PMID: 24945055 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

blood and tissue

MeSH Terms

Conditions

Rare Diseases; Amyloidosis; Sarcoidosis; Neurocutaneous Syndromes; Pheochromocytoma; Paraganglioma; von Hippel-Lindau Disease; Immunoglobulin G4-Related Disease; Demyelinating Diseases; Metabolism, Inborn Errors; Eosinophilic Esophagitis; Cardiomyopathy, Hypertrophic; Gaucher Disease; Adrenal Hyperplasia, Congenital; Angioedemas, Hereditary; Hypertension, Pulmonary; Hepatolenticular Degeneration; Vascular Malformations; Mastocytosis; Multiple Endocrine Neoplasia; Inflammatory Bowel Diseases; Prader-Willi Syndrome; Hirschsprung Disease; Cushing Syndrome; Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypersensitivity, Delayed; Hypersensitivity; Immune System Diseases; Nervous System Diseases; Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases; Skin and Connective Tissue Diseases; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Autoimmune Diseases; Esophagitis; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Gastroenteritis; Eosinophilia; Leukocyte Disorders; Hematologic Diseases; Hypersensitivity, Immediate; Cardiomyopathies; Heart Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Steroid Metabolism, Inborn Errors; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders; Angioedema; Hereditary Complement Deficiency Diseases; Primary Immunodeficiency Diseases; Urticaria; Skin Diseases, Vascular; Immunologic Deficiency Syndromes; Lung Diseases; Respiratory Tract Diseases; Hypertension; Liver Diseases; Basal Ganglia Diseases; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Metal Metabolism, Inborn Errors; Cardiovascular Abnormalities; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Mast Cell Activation Disorders; Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Intestinal Diseases; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Chromosome Disorders; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Digestive System Abnormalities; Megacolon; Colonic Diseases; Adrenocortical Hyperfunction; Hemostatic Disorders; Telangiectasis; Hemorrhagic Disorders

Study Officials

• Marcelo Serra, PhD

  HIBA

  PRINCIPAL INVESTIGATOR

• Soledad Kleppe, MD

  HIBA

  PRINCIPAL INVESTIGATOR

• Maria Lourdes Posadas Martinez, PhD

  HIBA

  PRINCIPAL INVESTIGATOR

• 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

  STUDY CHAIR

Central Study Contacts

Maria Lourdes Posadas Martinez, PhD

CONTACT

+54 11 49590200; maria.posadas@hospitalitaliano.org.ar

Paula Scibona, MD

CONTACT

+54 11 49590200; cepi@hospitalitaliano.org.ar

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 6, 2024
• First Posted: August 27, 2024
• Study Start: July 1, 2024
• Primary Completion (Estimated): December 31, 2034
• Study Completion (Estimated): December 31, 2034
• Last Updated: January 14, 2026

Record last verified: 2026-01

Locations

AR (1)