Patients who attend the National AKU Centre are given off-license nitisinone.
Nitisinone is currently licensed for use in treating a similar rare disease called hereditary tyrosinemia type 1 (HT-1). Patients who attend the National AKU Centre are prescribed 2mg daily, a significantly lower dose than prescribed in treating HT-1. Although it is not currently licensed for use in AKU, previous animal experiments and research studies have shown that nitisinone could be effective in treating it. Clinical research in the US showed that nitisinone reduced HGA levels by up to 95%. We ran a series of international clinical trials called DevelopAKUre, that measured the effectiveness of nitisinone in treating AKU. In 2020 we found out that this trial was successful and showed that the drug markedly reduced the levels of HGA in the body.
AKU is caused by a missing enzyme, which means the body cannot break down a substance called homogentisic acid (HGA). Nitisinone acts by blocking the enzyme which makes HGA. This then stops HGA from building up in the body and causing harm.
When a patient attends the National AKU Centre, they will receive a patient information booklet about nitisinone, containing all they need to know about the drug. Prof. L Ranganath, the leading doctor and consultant at the centre, will speak to patients on a one on one basis about the drug and any possible side effects that may occur.