The U.S. Food and Drug Administration (FDA) has approved Harliku (nitisinone) for the treatment of adult patients with alkaptonuria.
Alkaptonuria (AKU) is an ultra-rare inherited condition that causes urine to turn black when exposed to air as the result of homogentisic acid buildup.. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues, and arthritis of the spine and larger joints. Other features of this condition can include heart problems, kidney stones, and prostate stones. Alkaptonuria is caused by genetic changes in the HGD gene that leads to the build up of homogentisic acid.
Nitisinone is an orally administered hydroxyphenyl-pyruvate dioxygenase inhibitor that targets a key enzyme in the HGD cascade, reducing urinary homogentisic acid (HGA) concentrations in patients with AKU.
The approval is supported by results from a three-year, open-label, randomized, no-treatment controlled clinical trial in 40 patients with AKU. Nitisinone was observed to improve pain, physical function, and energy. The most common adverse events with nitisinone were elevated tyrosine levels, keratitis, and thrombocytopenia. The trial was published in Molecular Genetics and Metabolism in October 2024.
To learn more about AKU and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/
