Clinical Trial: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (RDCRN# 6203, Protocol Version Date 07Jan10)

Brief 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

Detailed Summary:

4. Study Design and Methods In conjunction with the DMCC, we will construct a relational database and web-based data collection instrument; see Table 1 showing the sites that will contribute to this effort. Data will include demographics, symptomology, cerebral angioarchitecture, other organ involvement and HHT gene mutation results.

The database will be used to serve Aim 2 and Aim 3 but will also serve as a platform to foster further HHT research. The recruitment of HHT BAVM cases will be emphasized by use of a 3:1 ratio for enrolling non-BAVM to BAVM HHT cases, i.e., for each brain AVM recruited, 3 patients without a brain AVM will be recruited. This will provide the largest RDCRN 6203 Cerebral Hemorrhage Risk in single sample available that will also have centralized expert neuroradiological adjudication of the brain phenotype.

The study design is detailed, by aim, in Section 6. The data to be collected is detailed in Sections 4.5 and 4.5.1 and the study schedule is detailed in Section 4.6.

4.1. Study Population: The study population will include patients with HHT, with inclusion and exclusion criteria as detailed in section 4.3. Cases will be recruited from two sources: (a) the network of HHT Centers of Excellence (Table 1); and (b) patients who contact study personnel or the HHT Foundation International after learning about the study through the HHT Foundation International social networks, the RDCRN public website, friends, physicians, relatives, etc.

Inclusion and exclusion criteria are detailed in section 4.3. 4.2. Case Ascertainment and Enrollment As shown in Table 2, we estimate conservatively that 875 cases will be available for recruitment over five years. Cases will be derived from two sources. First, we will re
Sponsor: St. Michael's Hospital, Toronto

Current Primary Outcome: Intracranial hemorrhage. [ Time Frame: From diagnosis to end of study ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: St. Michael's Hospital, Toronto

Dates:
Date Received: July 7, 2010
Date Started: April 2010
Date Completion: August 2019
Last Updated: May 17, 2017
Last Verified: May 2017