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Social network tackles extremely rare genetic disease

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Advocates have set out to unlock some of the mysteries of an extremely rare genetic disease--with the help of social media.

PatientsLikeMe, a provider of online patient communities, has created the first open registry for alkaptonuria (AKU) that lets patients share information about their ailment and shed light on the disease for the research community. It's working with the AKU Society, a nonprofit advocating for the disease that afflicts one in every 250,000 to 500,000 people.  

Big price tags on rare-disease drugs make almost no orphan ailment out of contention for serious attention from pharma companies. As PMLive reports, investigators are studying the use of Swedish Orphan Biovitrum's tyrosinaemia treatment Orfadin for combating AKU, and patients with the disease have already been taking the med off-label because it's not yet approved for their illness.

Alkaptonuria robs patients of their ability to break down some amino acids that can build up in tissue and lead to arthritis. It can darken urine to "black" and has been associated with heart disease and other health problems, according to the National Institutes of Health. Though vitamin C and other treatments improve the health of patients with the disease, there is no cure for the condition.

"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," PatientsLikeMe Chairman Jamie Heywood stated.

Last year Merck ($MRK) tapped PatientsLikeMe in an agreement to collaborate on understanding a much more common disease, psoriasis, with the goal of supporting Merck's R&D of treatments against the disease.

The AKU online registry could provide a more accurate figure of how many people have the genetic illness and aid efforts to develop more effective treatments.

- here's the release
- see PMLive's article

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