An observational study in Rare Diseases, Amyloidosis and Sarcoidosis, sponsored by Hospital Italiano de Buenos Aires. Recruiting at 1 site in Argentina. Per ClinicalTrials.gov, last updated 2026-01-14.
Sponsored by Hospital Italiano de Buenos Aires · Observational
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.
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.
592 studies on the registry are indexed under Rare Diseases; 125 are open to participants now.
This study's planned enrollment of 380 is above the median of 133 across 208 observational studies indexed under Rare Diseases.
Browse Rare Diseases studies →Hospital Italiano de Buenos Aires is the lead sponsor of 133 studies on the registry; 24 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
- Refusal to participate in the study or in the process.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Time frame: 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.
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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.
Plan to share: Undecided — 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.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
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