Haemorrhagic Hereditary TelangiectasiaNCT01761981
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
An observational study of Haemorrhagic Hereditary Telangiectasia, run by Hospital Italiano de Buenos Aires at 1 site in Argentina.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Haemorrhagic Hereditary Telangiectasia
- How many people
- 590 participants
- Where
- 1 siteArgentina
- Study dates
- 1 Jan 2010to Dec 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Haemorrhagic Hereditary Telangiectasia
Who may be able to join
- Patients with HHT defined.
- Followed in Unidad HHT of Hospital Italiano de Buenos Aires.
Who cannot join
- 1. Denied to participated in the registry or inform consent process.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Argentina1 site, 1 recruiting
- Recruiting
Hospital Italiano de Buenos Aires
Buenos Aires, Buenos Aires, 1081
Marcelo M Serra, MD, +541149590200 ext. 4419, marcelo.serra@hospitalitaliano.org.ar
Diego H Giunta, MD, +541149590200 ext. 4419, diego.giunta@hospitalitaliano.org.ar
About this study
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.
Read the 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.
- Conditions
- Haemorrhagic Hereditary Telangiectasia
- Keywords
- Haemorrhagic Hereditary Telangiectasia, Rendu Osler Weber Syndrome, Osler Weber Rendu Syndrome, HHT
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic
What is being measured
The primary outcome is the main question the study is designed to answer.
morbidity
Control visit every three month
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jan 2013 (estimated)
- Study start1 Jan 2010
- Primary completion19 May 2025
- Study completionDec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Haemorrhagic Hereditary TelangiectasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 590 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital Italiano de Buenos Aires
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, MARCELO MARTIN SERRA, Hospital Italiano de Buenos Aires
- Investigators
- Marcelo M Serra, MD, Principal investigator, HHT Center of Excelence Hospital Italiano de Buenos Aires
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01761981
- Sponsor's protocol ID
- 1900
- Status last verified
- Jul 2026
- First submitted
- 3 Jan 2013
- Last updated
- 30 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 28521822
Study at a glance
From the registry record, last updated by the sponsor on 30 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Institutional Registry of Haemorrhagic Hereditary Telangiectasia
- ClinicalTrials.gov ID
- NCT01761981
- Acronym / sponsor ID
- 1900
- Conditions
- Haemorrhagic Hereditary Telangiectasia
- Keywords
- Haemorrhagic Hereditary Telangiectasia, Rendu Osler Weber Syndrome, Osler Weber Rendu Syndrome, HHT
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 590 participants (estimated)
- Lead sponsor
- Hospital Italiano de Buenos AiresUniversity, hospital or other
- Study start
- 1 Jan 2010 (actual)
- Primary completion
- 19 May 2025 (actual)
- Study completion
- Dec 2035 (estimated)
- First posted
- 7 Jan 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Haemorrhagic Hereditary Telangiectasia
Key inclusion criteria (2 listed)
- Patients with HHT defined.
- Followed in Unidad HHT of Hospital Italiano de Buenos Aires.
Key exclusion criteria (1 listed)
- 1. Denied to participated in the registry or inform consent process.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
morbidity
Time frame: 1 year
Control visit every three month
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jul 2026.
- Derived from this study: PubMed 28521822Serra 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marcelo M Serra, MD principal investigator
HHT Center of Excelence Hospital Italiano de Buenos Aires
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Haemorrhagic Hereditary Telangiectasia, run by Hospital Italiano de Buenos Aires at 1 site in Argentina.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 30 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Argentina. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marcelo M Serra, MD (+541149590200 ext. 4419, marcelo.serra@hospitalitaliano.org.ar), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
morbidity (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01761981, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jul 2026.