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
  Purpose

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.


Condition
Hereditary Hemorrhagic Telangiectasia

Study Type: Observational
Study Design: Observational Model: Case Control
Official Title: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10)

Resource links provided by NLM:


Further study details as provided by St. Michael's Hospital, Toronto:

Primary Outcome Measures:
  • Intracranial hemorrhage. [ Time Frame: From diagnosis to end of study ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

blood and/or saliva


Estimated Enrollment: 3500
Study Start Date: April 2010
Estimated Study Completion Date: August 2019
Estimated Primary Completion Date: August 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
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

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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.

  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: NCT01158807

Locations
United States, California
David Geffen School of Medicine at University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90095
Contact: Polly Kay, R.N., CCRP    310-794-0376    pkay@mednet.ucla.edu   
Principal Investigator: Justin McWilliams, MD         
University of California, San Francisco Recruiting
San Francisco, California, United States, 94110
Contact: Dianna Guo    415-476-2677    dguo@anesthesia.ucsf.edu   
Principal Investigator: Michael Lawton, MD         
United States, Connecticut
Yale University Active, not recruiting
New Haven, Connecticut, United States, 06520-8042
United States, Georgia
Georgia Regents University Recruiting
Augusta, Georgia, United States, 30912-3135
Contact: Melissa James, RN    706-721-8391    mejames@gru.edu   
Principal Investigator: James R Gossage, MD         
United States, Maryland
Johns Hopkins University School of Medicine Not yet recruiting
Baltimore, Maryland, United States, 21287
Contact: Gina Robinson    410-502-3628    grobin11@jhmi.edu   
Principal Investigator: Doris Lin, MD, PhD         
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Boleyn Andrist    507-284-9946    Andrist.Boleyn@mayo.edu   
Principal Investigator: Vivek Iyer, MD         
United States, Missouri
Washington University School of Medicine Recruiting
St. Louis, Missouri, United States, 63110
Contact: Sharon Heuerman, RN    314-747-8174    sheuerman@dom.wustl.edu   
Principal Investigator: Murali Chakinala, Dr.         
United States, North Carolina
University of North Carolina at Chapel Hill Not yet recruiting
Chapel Hill, NC, North Carolina, United States, 27599
Contact: Karen Smith    919-966-0817    karens@med.unc.edu   
Principal Investigator: Raj Kasthuri, MD         
United States, Pennsylvania
University of Pennsylvania School of Medicine Withdrawn
Philadephia, Pennsylvania, United States, 19104
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Renee Neuharth    801-587-4877    renee.neuharth@hsc.utah.edu   
Principal Investigator: Jamie McDonald, M.S         
Sub-Investigator: Kevin Whitehead, MD         
Canada, Alberta
University of Alberta Active, not recruiting
Edmonton, Alberta, Canada, T6G 2B7
Canada, British Columbia
St. Paul's Hospital, University of British Columbia Active, not recruiting
Vancouver, British Columbia, Canada, V6Z 1Y6
Canada, Ontario
St. Michael's Hospital Recruiting
Toronto, Ontario, Canada, M5B 1W8
Contact: Myra Slutsky    416 864 6060 ext 2887    slutskym@smh.ca   
Principal Investigator: Marie Faughnan, MD         
Hospital for Sick Children Recruiting
Toronto, Ontario, Canada, M5G 1X8
Contact: Stephanie J Manning    (416) 813 - 4903    stephanie.jeanneretmanning@sickkids.ca   
Contact    (416) 813 6167      
Principal Investigator: Felix Ratjen, MD PhD FRCPC         
Netherlands
St. Antonius Hospital Recruiting
Nieuwegein, Netherlands, 3435
Contact: Mirjam Nauta    030 - 609 34 59    m.nauta@antoniusziekenhuis.nl   
Principal Investigator: Hans-Jurgen Mager, MD, PhD         
Sponsors and Collaborators
St. Michael's Hospital, Toronto
Investigators
Principal Investigator: Marie Faughnan, MD MSc FRCPC St. Michael's Hospital, Toronto
  More Information

Additional Information:
No publications provided

Responsible Party: St. Michael's Hospital, Toronto
ClinicalTrials.gov Identifier: NCT01158807     History of Changes
Other Study ID Numbers: RDCRN# 6203, 1U54NS065705
Study First Received: July 7, 2010
Last Updated: September 4, 2014
Health Authority: Canada: Ethics Review Committee

Keywords provided by St. Michael's Hospital, Toronto:
Hereditary Hemorrhagic Telangiectasia
Cerebral arteriovenous malformations

Additional relevant MeSH terms:
Telangiectasis
Telangiectasia, Hereditary Hemorrhagic
Hemorrhage
Cerebral Hemorrhage
Pathologic Processes
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities
Intracranial Hemorrhages
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases

ClinicalTrials.gov processed this record on September 30, 2014