Alkaptonuria (AKU) community

Alkaptonuria (AKU) is a rare autosomal recessive disease, affecting tyrosine metabolism. Patients accumulate homogentisic acid at 2000 times the normal rate, resulting in cartilage degradation and symptoms similar to early-onset osteoarthritis.

A chance to take part in major research looking at a new treatment for Alkaptonuria

Written by jenni_thorburn, published 4 days ago.

Clinical trials into the use of the drug Nitisinone to treat AKU patients.

Do you have Alkaptonuria?
Would you like to take part in research looking at a new treatment for Alkaptonuria?
AKU, also known as Black Bone Disease, is a rare genetic disorder in which an enzyme called homogentisate 1, 2- dioxygenase (HGD) is absent. HGD-enzyme usually breaks down a chemical in the body called homogentisic acid (HGA). In the absence of HGD-enzyme, there is a build-up of toxic HGA in the body. Some of this HGA reacts to become black pigments in a process called ochronosis. This black pigment is deposited in connective tissues, particularly cartilage, leading to early onset, severe arthritis, heart disease and disability.
Thanks to funding from the European Commission, the Royal Liverpool University Hospital for AKU in the UK is participating in a clinical trial of a drug called nitisinone, which could be a potential treatment for AKU.
Nitisinone is a drug that stops the production of HGA and should therefore prevent or slow the damage from AKU. This drug is currently licensed to treat a related disease, hereditary tyrosinemia type 1. Animal experiments and research studies in the past have shown that nitisinone could be effective in treating AKU.
Currently, we don‘t know if treating patients with nitisinone will prevent complications and decrease disease. To find out, we need to carry out a clinical trial, where we put people into two groups: one group with the treatment and one group without. The results are compared to see if the treatment works. To try to make sure the groups are the same to start with, each patient is put into a group by chance (randomly).
If you find that you are interested in the research and would like to consider taking part, please get in touch with the AKU society at patientrecruitment@akusociety.org
We are doing this to help people with AKU. Please do let us know of any thoughts/ views/ comments or questions that you may have. If this clinical trial is successful, we will be one step closer to getting nitisinone licensed for the treatment of AKU.