We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 1 of 3 for:    serra hereditary
Previous Study | Return to List | Next Study

Institutional Registry of Haemorrhagic Hereditary Telangiectasia

This study is currently recruiting participants.
Verified December 2015 by Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires
Sponsor:
ClinicalTrials.gov Identifier:
NCT01761981
First Posted: January 7, 2013
Last Update Posted: December 17, 2015
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires
  Purpose

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
Haemorrhagic Hereditary Telangiectasia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Resource links provided by NLM:


Further study details as provided by Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires:

Primary Outcome Measures:
  • morbidity [ Time Frame: 1 year ]
    Control visit every three month


Estimated Enrollment: 250
Study Start Date: June 2012
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
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 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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Haemorrhagic Hereditary Telangiectasia
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.

  Contacts and Locations
Information from the National Library of Medicine

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


Contacts
Contact: Marcelo M Serra, MD +541149590200 ext 4419 marcelo.serra@hospitalitaliano.org.ar
Contact: Diego H Giunta, MD +541149590200 ext 4419 diego.giunta@hospitalitaliano.org.ar

Locations
Argentina
Hospital Italiano de Buenos Aires Recruiting
Buenos Aires, Argentina, 1081
Contact: Marcelo M Serra, MD    +541149590200 ext 4419    marcelo.serra@hospitalitaliano.org.ar   
Contact: Diego H Giunta, MD    +541149590200 ext 4419    diego.giunta@hospitalitaliano.org.ar   
Sponsors and Collaborators
Hospital Italiano de Buenos Aires
Investigators
Principal Investigator: Marcelo M Serra, MD HHT Center of Excelence Hospital Italiano de Buenos Aires
  More Information

Responsible Party: Diego Hernan Giunta, MD, Marcelo Martin Serra, Hospital Italiano de Buenos Aires
ClinicalTrials.gov Identifier: NCT01761981     History of Changes
Other Study ID Numbers: 1900
First Submitted: January 3, 2013
First Posted: January 7, 2013
Last Update Posted: December 17, 2015
Last Verified: December 2015

Keywords provided by Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires:
Haemorrhagic Hereditary Telangiectasia
Rendu Osler Weber Syndrome
Osler Weber Rendu Syndrome
HHT

Additional relevant MeSH terms:
Telangiectasis
Vascular Diseases
Cardiovascular Diseases