Online patient community PatientsLikeMe has expanded its networking efforts to one of the world’s rarest diseases, setting up the world’s first open registry for patients suffering from alkaptonuria (AKU).
The first genetic disease to be discovered, AKU is estimated to affect one person in every 250,000-500,000 and leads to a condition that causes the bones and cartilage to become black and brittle.
Sufferers will now be able to track their disease progression through PatientsLikeMe, connect with others who have the disease and contribute health data to the registry’s real-time research platform.
PatientsLikeMe co-founder and chairman Jamie Heywood said: “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.”
AKU Society Chairman Nick Sireau said the registry could shed important new light on the disease.
“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. 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 will work with the AKU Society to gather data about AKU patients’ symptoms and daily lives to establish the most up-to-date source for new medical evidence about the disease.
Although there is currently no cure for AKU, Swedish Orphan Biovitrum’s tyrosinaemia treatment Orfadin (nitisinone) is used off-label to treat AKU and is expected to enter phase III trials for the condition later this year.
