Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Haemorrhagic Hereditary Telangiectasia Clinical Trial

Official title:

Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01761981
• Other study ID #: 1900
• Status: Recruiting
• Phase: N/A
• First received: January 3, 2013
• Last updated: December 16, 2015
• Start date: June 2012
• Est. completion date: December 2017

Study information

• Verified date: December 2015
• Source: Hospital Italiano de Buenos Aires
• Contact: Marcelo M Serra, MD
• Phone: +541149590200
• Email: marcelo.serra[@]hospitalitaliano.org.ar
• Is FDA regulated: No
• Health authority: Argentina: Administracion Nacional de Medicamentos, Alimentos y Tecnologia Medica
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 250
• Est. completion date: December 2017
• Est. primary completion date: June 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Haemorrhagic Hereditary Telangiectasia
• Telangiectasis

Locations

Country	Name	City	State
Argentina	Hospital Italiano de Buenos Aires	Buenos Aires

Sponsors (1)

Lead Sponsor	Collaborator
Hospital Italiano de Buenos Aires

Country where clinical trial is conducted

Argentina, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	morbidity	Control visit every three month	1 year	Yes

External Links

•   Web site to health workers and patients comunity about Haemorrhagic Hereditary Telangiectasia