In a non-blinded comparative trial of nitisinone versus no treatment in adults with alkaptonuria, a rare genetic disorder of tyrosine catabolism, this treatment greatly reduced the urinary concentration of homogentisic acid, the substance whose accumulation in the body is responsible for the symptoms of the disease. This trial only included patients with advanced disease, however. No efficacy was shown against osteoarticular disorders, the most debilitating complication of the disease. Nitisinone's adverse effects were mainly eye (especially corneal) disorders and lung infections. As of mid-2022, nitisinone has not been shown to represent a tangible therapeutic advance for patients with advanced alkaptonuria. As the effects of nitisinone on early alkaptonuria are unknown, continued evaluation is warranted, especially in younger patients with asymptomatic or mildly symptomatic disease.
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