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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
Sponsor:
Information provided by (Responsible Party):
Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires

January 3, 2013
January 7, 2013
December 17, 2015
June 2012
June 2017   (Final data collection date for primary outcome measure)
morbidity [ Time Frame: 1 year ]
Control visit every three month
Same as current
Complete list of historical versions of study NCT01761981 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
Institutional Registry of Haemorrhagic Hereditary Telangiectasia

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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
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Probability Sample
Patients with Haemorrhagic Hereditary Telangiectasia
Haemorrhagic Hereditary Telangiectasia
Not Provided
Not Provided
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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Unknown status
250
Same as current
December 2017
June 2017   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  1. Patients with HHT defined.
  2. Followed in Unidad HHT of Hospital Italiano de Buenos Aires.

Exclusion Criteria:

1. Denied to participated in the registry or inform consent process.

Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
Argentina
 
 
NCT01761981
1900
No
Not Provided
Not Provided
Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires
Hospital Italiano de Buenos Aires
Not Provided
Principal Investigator: Marcelo M Serra, MD HHT Center of Excelence Hospital Italiano de Buenos Aires
Hospital Italiano de Buenos Aires
December 2015