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AKU Society launches Global Patient Registry to drive research into ultra-rare disease alkaptonuria

April 5th 2024

The AKU Society today announced the launch of the first-ever global patient registry for alkaptonuria (AKU), an ultra-rare inherited metabolic disorder. The AKU Global Patient Registry will collect vital data from AKU patients around the world to accelerate research into potential treatments and work towards universal access to treatment.

AKU, also known as “Black Bone Disease,” is an ultra-rare genetic disorder caused by a defective gene that leads to an accumulation of homogentisic acid in the body. This causes a blackening of connective tissues over time, resulting in brittle and broken bones, severe early-onset osteoarthritis, kidney stones, heart complications, and Parkinson’s Disease. While the drug nitisinone can slow the disease progression, there is currently no cure.

“We only know of around 1,000 patients worldwide, so having a centralised database to track the prevalence and progression of AKU is critical to advancing our understanding of this devastating condition” said Nick Sireau, CEO & Chair of the AKU Society.

“The global registry will be an invaluable resource for researchers studying AKU and opportunities for therapeutic interventions.”
The AKU Global Patient Registry will gather demographic data from AKU patients worldwide along with information about their symptoms, disease progression, quality of life, and treatment history. Patients enrolled in the registry will be asked to complete an annual questionnaire to provide an ongoing overview of the progression of their condition.

“With so few AKU patients spread across the globe, a coordinated international registry is crucial for amassing sufficient data to support clinical research” said Professor Ranganath, a world-leading AKU researcher and co-founder of the AKU Society. “We urge all AKU patients to take part in this important initiative that could pave the way for more effective treatments and hopefully one day a cure for this debilitating condition. Understanding how the condition develops in different countries around the world will help us treat it better.”

AKU patients and their families can learn more about the global registry here and sign up here. Please contactregistry@akusociety.orgwith any questions.

About the AKU Society

The AKU Society is the only global patient advocacy group for the rare genetic disorder alkaptonuria (AKU). Founded in 2003, the charity funds research into potential therapies, provides patient support services, and raises awareness of AKU worldwide. For more information,

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