Clinical trial NCT01761981: Institutional Registry of Haemorrhagic Hereditary Telangiectasia
Official title: Institutional Registry of Haemorrhagic Hereditary Telangiectasia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Haemorrhagic Hereditary Telangiectasia
Keywords: Haemorrhagic Hereditary Telangiectasia
Rendu Osler Weber Syndrome
Osler Weber Rendu Syndrome
HHT
Lead sponsor: Hospital Italiano de Buenos Aires
Sponsor class: OTHER
First posted: 2013-01-07
Enrollment: 590
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Haemorrhagic Hereditary Telangiectasia

Brief 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.

Detailed 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 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.

Eligibility criteria: 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.

Primary outcomes:
measure: morbidity
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
Study officials:
affiliation: HHT Center of Excelence Hospital Italiano de Buenos Aires
name: Marcelo M Serra, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.