Health TrialsbyHealthPanel

Institutional Registry of Rare Diseases

ConditionsRare DiseasesAmyloidosisSarcoidosisPhacomatosisPheochromocytomaParagangliomaVon Hippel-Lindau DiseaseImmunoglobulin G4-Related DiseaseDemyelinating DiseasesInborn Errors of MetabolismEosinophilic Gastrointestinal DisordersHypertrophic CardiomyopathyGaucher DiseaseCongenital Adrenal HyperplasiaHereditary AngioedemaPulmonary HypertensionWilson DiseaseVascular AnomaliesMastocytosisMultiple Endocrine NeoplasiaInflammatory Bowel DiseasesPrader-Willi SyndromeHirschsprung DiseaseCushing SyndromeHHTHemorrhagic Hereditary Telangiectasia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorHospital Italiano de Buenos Aires

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

None

Trial 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.

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

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.
2

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.
3

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.
4

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.

Secondary outcomes

Other outcomes

Locations

1

Map coordinates are unavailable for these locations. Locations are shown below instead.

Hospital Italiano de Buenos AiresRecruitingC1199ABB, Buenos Aires, Buenos AiresArgentinaArgentina

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Hospital Italiano de Buenos Aires

Lead sponsor

Source ClinicalTrials.gov
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