Institutional Registry of Haemorrhagic Hereditary Telangiectasia
NCT ID: NCT01761981
Last Updated: 2025-05-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
590 participants
OBSERVATIONAL
2010-01-01
2035-12-31
Brief Summary
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This study will also describe the occurrence of Haemorrhagic Hereditary Telangiectasia in the population of HIBA in the Central Hospital, as well as the characteristics of clinical presentation and evolution.
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Detailed Description
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Molecular mechanism of this disorder are complex and still no fully dilucidated. The genes mutated in HHT encode endothelial cell-expressed proteins that mediate signalling by the transforming growth factor (TGF)b superfamily. Endoglin (HHT type I) and ACVRL-1 (HHT type 2) mutations are responsible in more than 80% of the individuals. Mutation of SMAD 4 protein (MADH4)cause HHT in association with juvenile polyposis. HHT may associated with primary pulmonary hypertension en more rare cases.
There are not HHT registry in Argentina and Latinamerican population. This registry may gader valious information in order to generate a better diagnosis and treatment of our population and others.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
2. Followed in Unidad HHT of Hospital Italiano de Buenos Aires.
Exclusion Criteria
ALL
No
Sponsors
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Hospital Italiano de Buenos Aires
OTHER
Responsible Party
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MARCELO MARTIN SERRA
Marcelo Martin Serra
Principal Investigators
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Marcelo M Serra, MD
Role: PRINCIPAL_INVESTIGATOR
HHT Center of Excelence Hospital Italiano de Buenos Aires
Locations
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Hospital Italiano de Buenos Aires
Buenos Aires, Buenos Aires, Argentina
Countries
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Central Contacts
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Facility Contacts
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References
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Serra MM, Besada CH, Cabana Cal A, Saenz A, Stefani CV, Bauso D, Golimstok AB, Bandi JC, Giunta DH, Elizondo CM. Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2017 May 18;12(1):92. doi: 10.1186/s13023-017-0632-2.
Other Identifiers
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1900
Identifier Type: -
Identifier Source: org_study_id
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