A number of institutions are ramping up their efforts to establish patient registries to facilitate research, and today we're highlighting one such effort in the U.K., with a particular interest in XLH patients.
The UK's National Institute for Health Research (NIHR) has a mission "to maintain a health research system in which the NHS [publicly funded healthcare system] supports outstanding individuals, working in world class facilities, conducting leading edge research focused on the needs of patients and the public."
The NIHR has commissioned a project, known as the Rare UK bone, joint and blood vessel Disease study (RUDY). It's led by a research team at the University of Oxford, and funded by a partnership between the NIHR Rare Diseases Translational Research Collaboration and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. At present, the study is limited to UK patients, but they're hoping to develop European collaborations. UK residents will soon be able to visit Rudystudy.org to learn more or to sign up.
The project was intended to address three problems: rare disorders (like XLH) are under-researched; the information on these disorders, for both patients and doctors, is fragmented; and there is limited reliable data on treatment of these disorders to inform care providers. One of the biggest frustrations for XLH patients is that the symptoms and response to treatment are so variable that treatment involves a great deal of trial and error.
Initially, the project is focused on just six bone disorders, four vascular (blood vessel) disorders, and one other disorder. It may be expanded later to include other conditions. Within the XLH community, the researchers are hoping that the data will provide some clues about the predictors of enthesopathy (the calcification of tendons and ligaments that we're prone to), response to treatment in children, and predictors of non-union fractures. According to the initial documentation, they're looking to learn more about the mechanism of bone pain from patients with another condition that's being studied, fibrous dysplasia, but it wouldn't surprise us XLHers if they also found useful information on the topic from XLH patients.
The project doesn't offer treatment, but collects data on patients, symptoms and treatments. This information will then be available to researchers. For XLH patients, the data may include physical exams, blood and urine samples and bone density scans, as well as collection of past medical records, with lab results and treatment methods.
Obviously, any collection of data is going to raise questions of privacy. Sensitive data will be encrypted and anonymized before it reaches the researchers. Nevertheless, each prospective participant will be well-advised to think about the consequences of sharing information, to read the consent documents carefully, and to decide which pieces of information he or she is willing to share. The project is set up to allow each participant to decide how much information to release, so it's not an all-or-nothing situation. It's not an easy decision, balancing the individual's privacy with the good for all similarly diagnosed patients that could come out of sharing the information. Obviously, the more data the group can collect, the better the conclusions will be with respect to best practices in patient care.
The project reflects a modern trend toward involving patients – and patient support groups – more directly in the research, helping to guide the research, not just providing the blood and urine samples. The project's leaders are seeking feedback from representatives of the patients in each of the studied group, and this openness to feedback is reflect in the study's motto: "Uniting patients and researchers to investigate rare diseases."
Consistent with that approach, XLH Network Director, Oliver Gardiner, is acting as a liaison between the study and XLH patients in the UK. During an informational session on the project, he met with other liaisons representing patients with Fibrosis Dysplasia, Osteogenesis Imperfecta (Brittle Bone), Vasculitis and Lupus. The Genetic Alliance UK was also present, but not representing a particular condition.
Oliver found it uplifting to see so much excitement around the discussion of XLH, and he gained useful insights into how other patient support groups operate. He'll be keeping us up to date on the progress of the study and any useful conclusions that come out of it.