Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (BVMN6203)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by St. Michael's Hospital, Toronto
Sponsor:
Collaborator:
Information provided by (Responsible Party):
St. Michael's Hospital, Toronto
ClinicalTrials.gov Identifier:
NCT01158807
First received: July 7, 2010
Last updated: September 4, 2014
Last verified: September 2014

July 7, 2010
September 4, 2014
April 2010
August 2019   (final data collection date for primary outcome measure)
Intracranial hemorrhage. [ Time Frame: From diagnosis to end of study ] [ Designated as safety issue: No ]
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Complete list of historical versions of study NCT01158807 on ClinicalTrials.gov Archive Site
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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10)

This study is one of the three projects of an NIH Rare Disease Clinical Research Consortium. A "consortium" is a group of centres sharing information and resources to perform research. The consortium research focuses on brain blood vessel malformations in three different rare diseases.

The focus of this specific study is on Hemorrhagic Telangiectasia (HHT).

HHT is a condition characterized by blood vessel malformations, called telangiectasia and arteriovenous malformations (AVMs), occurring in the brain, nose, lungs, stomach, bowels and liver. Brain AVMs (BAVMs) in HHT are difficult to study because they are rare, affecting approximately 10% of people with HHT. While other types of BAVMs have been studied in depth, studies in the HHT population have been very small. Here, we propose the first large-scale collaboration by joining with 12 HHT Centers of Excellence in North America to perform a large study of risk factors for bleeding from BAVMs, called intracranial hemorrhage (ICH) in HHT patients.

The current standard of clinical practice across North America, is to screen all HHT patients for BAVMs with magnetic resonance imaging (MRI). If BAVMs are detected, patients are referred to a multidisciplinary neurovascular team for consideration for treatment. Treatment decisions are made on a case by case basis, balancing risks of complications from the BAVM with risks of therapy, but are limited by the few studies available in HHT. We hope that the knowledge we obtain about the risk factors for intracranial bleeding in these patients from this larger study will help us to improve the care of HHT patients.

We plan to study risk factors for rupture of BAVMs, including primarily genetics and imaging characteristics of the BAVMs. Knowledge about risk factors will help in the care and management of HHT patients. This will be achieved through the collection of health information to construct a HHT database, blood sampling and banking (through the National Institute of Neurological Disorders and Stroke [NINDS]), and through genetic analysis at the University of California San Francisco.

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Observational
Observational Model: Case Control
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Retention:   Samples With DNA
Description:

blood and/or saliva

Non-Probability Sample

HHT individuals with a history of brain arteriovenous malformation. HHT individuals without a history of brain arteriovenous malformation.

Hereditary Hemorrhagic Telangiectasia
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  • HHT- Brain Arteriovenous Malformation
    1. Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT and
    2. Presence of Brain Arteriovenous Malformation
  • HHT -NO BAVM
    1. Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
3500
August 2019
August 2019   (final data collection date for primary outcome measure)

Inclusion criteria:

A.Definite clinical HHT diagnosis (at least 3 Curacao criteria)or genetic diagnosis of HHT or

B. Definite clinical HHT diagnosis (at least 3 Curacao criteria) or genetic diagnosis of HHT and Presence of Brain Arteriovenous Malformation

ABLE TO PROVIDE INFORMED CONSENT

Curacao criteria: (a)spontaneous recurrent nosebleeds; (b) mucocutaneous telangiectasia at characteristic sites (lips, oral cavity or the nose); (c) visceral involvement such as pulmonary, hepatic or CNS BAVM; and (d) an affected first degree relative by same criteria.

3. Willingness Willingness to participate in the study and ability to give informed consent

Exclusion Criteria:

Patients not complying with Inclusion criteria.

Both
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United States,   Canada,   Netherlands
 
NCT01158807
RDCRN# 6203, 1U54NS065705
No
St. Michael's Hospital, Toronto
St. Michael's Hospital, Toronto
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Marie Faughnan, MD MSc FRCPC St. Michael's Hospital, Toronto
St. Michael's Hospital, Toronto
September 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP