Institutional Registry of Haemorrhagic Hereditary Telangiectasia

NCT ID: NCT01761981

Last Updated: 2025-05-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

590 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-01-01

Study Completion Date

2035-12-31

Brief Summary

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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

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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.

Conditions

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Haemorrhagic Hereditary Telangiectasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospital Italiano de Buenos Aires

OTHER

Sponsor Role lead

Responsible Party

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MARCELO MARTIN SERRA

Marcelo Martin Serra

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Marcelo M Serra, MD

Role: PRINCIPAL_INVESTIGATOR

HHT Center of Excelence Hospital Italiano de Buenos Aires

Locations

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Hospital Italiano de Buenos Aires

Buenos Aires, Buenos Aires, Argentina

Site Status RECRUITING

Countries

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Argentina

Central Contacts

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Marcelo M Serra, MD

Role: CONTACT

+541149590200 ext. 4419

Diego H Giunta, MD

Role: CONTACT

+541149590200 ext. 4419

Facility Contacts

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Marcelo M Serra, MD

Role: primary

+541149590200 ext. 4419

Diego H Giunta, MD

Role: backup

+541149590200 ext. 4419

References

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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.

Reference Type DERIVED
PMID: 28521822 (View on PubMed)

Other Identifiers

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1900

Identifier Type: -

Identifier Source: org_study_id

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