PatientsLikeMe, a patient network that helps improve lives and a real-time research platform that advances medicine, and the AKU Society, which helps patients with alkaptonuria (AKU), raises awareness and supports research into its treatment, are working together to create the first open, global registry for patients with AKU, one of the world's rarest diseases and the first genetic disease discovered.
Nicknamed "black bone disease," AKU leads to a condition that causes the bones and cartilage to become black and brittle. Through PatientsLikeMe.com, patients with AKU can now track their disease progression, connect with others who have the disease and contribute health data to the registry's real-time research platform.
AKU Society chairman Nick Sireau says rare diseases affect millions of people worldwide, but questions about them are so costly for nonprofits to investigate that they remain largely unanswered.
"More than 100 years after its discovery, we still don't know exactly how many people have AKU, or what they are doing and experiencing,” said Sireau. “We're excited to partner with PatientsLikeMe to help patients connect with each other and help researchers answer some of the most fundamental questions about rare diseases."
PatientsLikeMe works with nonprofits to establish open registries for both rare and common diseases. With the AKU Society, the company will regularly gather data about AKU patients' symptoms and daily lives to establish the most up-to-date source for new medical evidence about the disease.
"This open registry will give anyone—hospitals, pharmacies, providers, nonprofits and patients themselves—a real world view of where and how the disease affects people. This information is vital to deepen our collective understanding of AKU and to drive smarter action, more effective treatments and better patient outcomes,” said Jamie Heywood, cofounder and chairman of PatientsLikeMe.