Rare disease research relies upon pooled data to yield meaningful results. When these large registries include patient-reported information, validating the data is a laborious – yet vital – process.
”We need to compensate for the inherent limitation that the records include some misunderstood diagnoses and some with no physician diagnosis,” said Jason Springer, M.D., a rheumatologist at Vanderbilt University Medical Center and board member of the Vasculitis Foundation®. Springer is collaborating with Tanaz Kermani, M.D., of the University of California, Los Angeles, to enhance the integrity of one rare disease registry, the Vasculitis Patient-Powered Research Network (VPPRN).
Said Springer, “Diagnosing vasculitis, and isolating specific forms of vasculitis in particular, can be elusive. Registry users depend on validation work for the VPPRN to be research-ready for clinical trials.”
“Registry users depend on validation work for the VPPRN to be research-ready for clinical trials.”
The Registry at Work
Patients on the VPPRN are encouraged to not only report their conditions, but to ask questions or make requests. “One thing they report is frustration over how long it can take to be diagnosed,” Springer said.
One of the largest studies that uses the VPPRN is the TAPIR trial (The Assessment of Prednisone In Remission), which compares maintenance low-dose prednisone for granulomatosis with polyangiitis (GPA) versus tapering off completely. Patients interact with the TAPIR study through the VPPRN portal. They consent online and then take a form to their physician to confirm both the diagnosis and the safety of being randomized to the group tapering off prednisone.
In the future the VPPRN could benefit from EHR algorithms alerting physicians to vasculitis symptoms for earlier diagnosis. “Our hopes are that in the future we will be able to link the VPPRN to EHRs,” Springer said. “As more correct diagnoses are made, this will serve to enrich the VPPRN database and bolster its utility.”
“As more correct diagnoses are made, this will serve to enrich the VPPRN database and bolster its utility.”
Tackling Additional Diagnoses
Springer and Kermani recently presented an abstract at the American College of Rheumatology Convergence 2020 meeting on their VPPRN-based study of IgA vasculitis, which is rarer than GPA or microscopic polyangiitis (MPA). “These diseases are more common in children, who tend to have a more self-limited and less severe course. We need to study them in adults, where they can have a serious impact on the kidneys,” Springer said.
They plan to look at the other conditions in the VPPRN, including eosinophilic granulomatosis with polyangiitis (or Churg Strauss), polyarteritis nodosa, Takayasu’s arteritis, urticarial vasculitis and cryoglobulinemic vasculitis.
“By the end of our efforts, hopefully we will have a good idea of patterns in the data that suggest a strong or low likelihood of a participant having the diagnosis,” he said. “We also hope to eventually link VPPRN information with data from clinical data research networks.”
At Vanderbilt, Springer is currently working to develop a vasculitis center of excellence that will combine multidisciplinary clinical expertise with a comprehensive research program.