Trial record 11 of 12 for:    Sturge-Weber Syndrome

Institutional Registry of Haemorrhagic Hereditary Telangiectasia

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2013 by Hospital Italiano de Buenos Aires
Sponsor:
Information provided by (Responsible Party):
Diego Giunta, Hospital Italiano de Buenos Aires
ClinicalTrials.gov Identifier:
NCT01761981
First received: January 3, 2013
Last updated: NA
Last verified: January 2013
History: No changes posted
  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

Resource links provided by NLM:


Further study details as provided by Hospital Italiano de Buenos Aires:

Primary Outcome Measures:
  • morbidity [ Time Frame: 1 year ] [ Designated as safety issue: Yes ]
    Control visit every three month


Estimated Enrollment: 250
Study Start Date: June 2012
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

Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01761981

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

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

Additional Information:
No publications provided

Responsible Party: Diego Giunta, Marcelo Martin Serra, Hospital Italiano de Buenos Aires
ClinicalTrials.gov Identifier: NCT01761981     History of Changes
Other Study ID Numbers: 1900
Study First Received: January 3, 2013
Last Updated: January 3, 2013
Health Authority: Administracion Nacional de Medicamentos, Alimentos y Tecnologia Medica: Argentina

Keywords provided by 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

ClinicalTrials.gov processed this record on July 31, 2014