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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

Tracking Information
First Submitted Date January 3, 2013
First Posted Date January 7, 2013
Last Update Posted Date December 17, 2015
Study Start Date June 2012
Estimated Primary Completion Date June 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 3, 2013)
morbidity [ Time Frame: 1 year ]
Control visit every three month
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Institutional Registry of Haemorrhagic Hereditary Telangiectasia
Official Title Institutional Registry of 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 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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Probability Sample
Study Population Patients with Haemorrhagic Hereditary Telangiectasia
Condition Haemorrhagic Hereditary Telangiectasia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * 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.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: January 3, 2013)
250
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2017
Estimated Primary Completion Date June 2017   (Final data collection date for primary outcome measure)
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.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Argentina
Removed Location Countries  
 
Administrative Information
NCT Number NCT01761981
Other Study ID Numbers 1900
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires
Study Sponsor Hospital Italiano de Buenos Aires
Collaborators Not Provided
Investigators
Principal Investigator: Marcelo M Serra, MD HHT Center of Excelence Hospital Italiano de Buenos Aires
PRS Account Hospital Italiano de Buenos Aires
Verification Date December 2015