Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Planning is under way to commence a new longitudinal observational study of Huntington's disease. This is an unprecedented effort with global scope and the hope to provide the HD research community with a new platform to support clinical research and future trials.
Contributed by Joe Giuliano
Director, Clinical Operations
CHDI Management, Inc, (Advisors to the CHDI Foundation)
Enroll-HD brings together two important studies: the COHORT study, previously run by the Huntington's Study Group under the Principal Investigator Dr. Ira Shoulson and the "Registry" study an ongoing initiative of the European Huntington's Disease Network under the leadership of Dr. G. Bernhard Landwehrmeyer (who will also serve as the Principal Investigator for Enroll-HD).
These studies have been running for almost six years and have recruited over 10,000 research participants, thousands of participant-years of observations and numerous biologic samples. Enroll-HD is designed to bring these efforts together under one study collecting a standard core clinical data set and high quality bio-specimens. In addition, Enroll-HD will include centers in Latin America where an enthusiastic group of investigators under the leadership of Dr. Frederico Micheli is organizing.
The aims of Enroll-HD are threefold:
To improve our understanding of the phenotypic spectrum and the disease mechanisms of HD
To promote development of evidence-based guidelines to inform clinical decision making and improve health outcomes for patients and families
To provide a platform to enable and support the design and conduct of clinical trials
To achieve these aims some of the work that is planned includes:
Collecting natural history data including cognitive, behavioral and motor measures that might shed light on the variability of progression rates as well as the environmental and genetic factors that might influence progression
Providing protocol flexibility so interested investigators can propose sub-studies that can be executed with relative ease
Develop a platform from which outcomes research can be conducted in HD cohorts
Providing a resource for that will assist investigators in identifying potential clinical trial participants; using data from Enroll-HD, investigators will be able to make data-driven decisions about which participants would be most appropriate for initial screening
As mentioned, one main goal of Enroll-HD is to provide the HD research community with a platform that will help develop the tools and data needed to conduct successful clinical trials of investigational therapeutics targeting HD. An important step toward that goal involves the development and validation of rating scales and other measures of disease progression. This involves an iterative process that is much easier to execute within the framework of a study like Enroll-HD. There are other investigations like gene-wide association studies which require enormous data sets of well characterized participant phenotypes as well as high quality DNA samples: Enroll-HD will provide this kind of high quality data by building on the existing COHROT and Registry datasets.
As one can imagine work with a global constituency to develop a collaborative coalition of investigators takes a lot of work. The Executive Oversight Committee (EOC) charged with guiding the development of Enroll-HD has initiated a collaborative and inclusive process that involves eight working groups dealing with topics like bio-repository planning, data sharing and publication policies. Mirroring the future of Enroll-HD, The EOC includes members from North America, Latin America, Europe and Australia. Over the past six months, over 100 individuals from 23 countries have participated in a variety of working groups addressing the challenging issues involved in planning a global collaboration like Enroll-HD. Working through protocol development, ethical considerations, global regulations and harmonization of processes has brought together HD researchers, family members and experts from around the world with one goal in mind: to develop a world-class collaboration that will move the HD research community closer to the goal of developing safe and efficacious treatments for this horrible disease.
If you are interested in finding out more about Enroll-HD please contact Joe Giuliano at the CHDI Foundation (email@example.com).
Enroll-HD Working Groups
Advances in understanding the pathogenesis of HD and the discovery of parallel biomarkers have largely been limited by the availability of systematically collected longitudinal data and suitably collected biological specimens. The Cooperative Huntington's Observational Research Trial (COHORT) was developed to address this unmet need. COHORT is a research project of the Huntington Study Group (HSG) aimed at providing scientists with prospectively collected clinical data and biological specimens that can be used to advance scientific knowledge, which in turn will lead to treatments that forestall onset and slow the progression of HD. The COHORT sample includes individuals with manifest Huntington's disease (HD), unaffected individuals known to carry the HD gene, unaffected individuals who are at risk of carrying the HD gene, and family members who have no risk for HD due to no family history or negative HD gene testing (control subjects).
Clinical data includes demographics, clinical features, family history, and genetic characteristics. Biological specimens include blood and urine.The purpose of providing scientists with integrated clinical data and biological specimens is to support research that will: 1) better inform us about the onset and progression of HD; 2) help to identify potential interventions for HD; 3) aid in planning studies of experimental treatments aimed at forestalling onset or slowing the progression of HD; and 4) provide research material and correlative data to aid in the identification of biomarkers that parallel the development and progression of HD and can be used to enhance the efficiency and power of disease-modifying therapeutic trials.
FOR MORE INFORMATION ABOUT SAMPLE AND DATA ACCESS CONTACT: Shari Kinel at the Huntington Study Group: [Shari_Kinel@URMC.Rochester.edu]