Institutional Registry of Haemorrhagic Hereditary Telangiectasia
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|ClinicalTrials.gov Identifier: NCT01761981|
Recruitment Status : Unknown
Verified December 2015 by Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires.
Recruitment status was: Recruiting
First Posted : January 7, 2013
Last Update Posted : December 17, 2015
The purpose of this study is to create an institutional and population-based registry of Haemorrhagic Hereditary Telangiectasia with a prospective survey based on epidemiological data, risk factors, diagnosis, prognosis, treatment, monitoring and survival.
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.
|Condition or disease|
|Haemorrhagic Hereditary Telangiectasia|
Haemorrhagic Hereditary Telangiectasia is a uncommon autosomic hereditary disorder caracterizad for recurrent epistaxis,cutaneomucous telangiectasias and arteriovenous malformations in diferent organs; brain, lung, liver and gastrointestinal are more often afected . Afect one in 5000-8000 individual in worldwide. HHT may produce important morbidity like brain absces, stroke, hemoptisis and cronic ferropenic anemia.
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 arent HHT register 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.
|Study Type :||Observational|
|Estimated Enrollment :||250 participants|
|Official Title:||Institutional Registry of Haemorrhagic Hereditary Telangiectasia|
|Study Start Date :||June 2012|
|Estimated Primary Completion Date :||June 2017|
|Estimated Study Completion Date :||December 2017|
- morbidity [ Time Frame: 1 year ]Control visit every three month
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01761981
|Contact: Marcelo M Serra, MD||+541149590200 ext firstname.lastname@example.org|
|Contact: Diego H Giunta, MD||+541149590200 ext email@example.com|
|Hospital Italiano de Buenos Aires||Recruiting|
|Buenos Aires, Argentina, 1081|
|Contact: Marcelo M Serra, MD +541149590200 ext 4419 firstname.lastname@example.org|
|Contact: Diego H Giunta, MD +541149590200 ext 4419 email@example.com|
|Principal Investigator:||Marcelo M Serra, MD||HHT Center of Excelence Hospital Italiano de Buenos Aires|