Topics

Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia

2014-08-27 03:12:22 | BioPortfolio

Summary

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.

Study Design

Observational Model: Case Control

Conditions

Hereditary Hemorrhagic Telangiectasia

Location

St. Michael's Hospital
Toronto
Ontario
Canada
M5B 1W8

Status

Recruiting

Source

St. Michael's Hospital, Toronto

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:12:22-0400

Clinical Trials [357 Associated Clinical Trials listed on BioPortfolio]

Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia

Investigators will test the value of very low dose Pazopanib administered to patients with hereditary hemorrhagic telangiectasia for the reduction in the severity of nose bleeds in those w...

Timolol Gel for Epistaxis in Hereditary Hemorrhagic Telangiectasia

This study is a double-blinded, randomized controlled trial to evaluate the efficacy of an intranasal topical timolol gel in the care for epistaxis in adults with hereditary hemorrhagic te...

Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia

OBJECTIVES: I. Evaluate migraine prophylaxis with soy protein isolate in patients with hereditary hemorrhagic telangiectasia. II. Assess whether soy protein isolate reduces the frequenc...

Propranolol for Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of angiogenesis associated with disabling epistaxis. Management of these nose bleedings requires more effective treatment....

Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients

OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT). II. Establish genotype-phenotype correlations in HHT. III. Create a database o...

PubMed Articles [747 Associated PubMed Articles listed on BioPortfolio]

Identification of two distinct hereditary hemorrhagic telangiectasia patient subsets with different hepatic perfusion properties by combination of contrast-enhanced ultrasound (CEUS) with perfusion imaging quantification.

Hereditary hemorrhagic telangiectasia (HHT) is marked by arteriovenous fusion comprising hepatic vascular malformations (HVaMs) with the chance of bleeding.

Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs. Recurrent epi...

Retrospective analysis of sub mucosal radiofrequency procedure for the treatment of nasal bleeding in forty-four patients with hereditary hemorrhagic telangiectasia.

No treatment of epistaxis has proved its superiority in hereditary hemorrhagic telangiectasia. Submucosal radiofrequency (SRF) can reduce Epistaxis Severity Score up to 24 months after surgery. SRF is...

mTOR-inhibitor-based immunosuppression following liver transplantation for Hereditary Hemorrhagic Telangiectasia.

We have read with interest the article by Dumortier et al. reporting that patients with hereditary hemorrhagic telangiectasia (HHT) have a high radiological recurrence rate after liver transplantatio...

Highlights of the 13th International Hereditary Hemorrhagic Telangiectasia Scientific conference.

Medical and Biotech [MESH] Definitions

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

A membrane glycoprotein and ANGIOGENESIS FACTOR that is expressed by cells of the VASCULAR ENDOTHELIUM; VASCULAR SMOOTH MUSCLE; and MONOCYTES. It functions as a co-receptor for TRANSFORMING GROWTH FACTOR BETA and modulates CELL ADHESION. Mutations in the endoglin gene are associated with cases of HEREDITARY HEMORRHAGIC TELANGIECTASIA.

A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME.

A species in the genus LAGOVIRUS which causes hemorrhagic disease, including hemorrhagic septicemia, in rabbits.

Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

More From BioPortfolio on "Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia"

Quick Search

Relevant Topics

Alzheimer's Disease
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase  'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...

Hepatology
Hepatology is the study of liver, gallbladder, biliary tree, and pancreas, and diseases associated with them. This includes viral hepatitis, alcohol damage, cirrhosis and cancer. As modern lifestyles change, with alcoholism and cancer becoming more promi...


Searches Linking to this Trial