VWD PreCon Explores ‘Similar But Different’
By Fiona Soltes
By best estimates, as many as one in 100 people, both men and women, have von Willebrand disease; for one in 1,000, it’s clinically relevant.
And yet, the number diagnosed is nowhere near these figures. Not only is it underdiagnosed and undiagnosed; it’s also all too often diagnosed late, with a long lag time between first bleed and transition into proper care. Individuals have unique bleeding characteristics and important differences from those with hemophilia, but there’s a tendency toward a one-size-fits-all approach to treatment. There also are limited therapeutic options, and there’s a lack of awareness.
“Despite the significantly higher prevalence of VWD in the population, there are far too few treatment options,” said Kevin Mills, PhD, NHF chief scientific officer. Compared to hemophilia—or more broadly, other illnesses—there’s also a significant lack of research.
But progress is being made, even if slowly. Mills and others provided background, insight and proof of momentum during VWD PreCon: Time Capsule – The Past, Present, and Future – Sponsored by CSL Behring. Lena Volland, PT, DPT, NHF director of education, noted more than once that the overall Thursday morning session was “exciting.” In addition to Mills, scheduled speakers included Donna Coffin, research and public policy director, World Federation of Hemophilia, and Robert Sidonio, Jr., MD, MSc, medical director of hemophilia, Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta/Emory University.
Sidonio shared the story of Erik von Willebrand, reporting mucocutaneous bleeding and death among several members of a family on the Aland islands in the Baltic sea. The index case, however, was a five-year-old girl who died after her fourth menstrual period. It wasn’t until many decades later that VWD was identified as separate from Factor VIII. Hemophilia is easy to diagnose; tests for VWD, conversely, are complex, and specialized training is required to run the assays.
As hemophilia and VWD are similar but also quite different, that means a discrepancy in care, variability in management, limited VWD trials, and patient frustration due to lack of consensus.
Sidonio covered trials of two drugs, each in phase 3: a prospective study of Wilate prophylaxis in VWD, and Takeda’s VONVENDI recombinant von Willebrand factor replacement therapy.
Future approaches—some admittedly “pie in the sky,” he said—include somatic gene therapy, transcriptional silencing, cellular therapy, increasing VWF levels, compensating Factor VIII deficiency, gene editing and preventing excessive von Willebrand factor degradation.
NHF, meanwhile, is doing its part. The organization supports research and researchers through grants; provides resources through the Community Voices in Research registry; and is developing both the National Research Blueprint and Pathway to Cures, a venture philanthropy fund aimed at accelerating innovative research. The fund will invest in the “four Ds” of drugs, diagnostics, digital health technologies, and devices and wearables.
As for the Blueprint, it will be a clear and actionable plan with measurable milestones; clearly defined roles and responsibilities; progress measurement; and transparency, communication and accountability. It began with 98 participants in 14 sessions, as well as a cross-community survey. Themes have emerged, as have research values (people centricity, collaboration and health equity, diversity and inclusion). Various working groups will continue moving the effort forward.
“Research is like a community barn-raising,” Mills said. It’s not like a contractor building a single-family home, with benefits for just a few. Rather, it’s about everyone coming together to build something—and the entire community benefits as a result. ■