About Alkaptonuria
Alkaptonuria is a rare inherited disorder of tyrosine metabolism caused by deficiency of homogentisate dioxygenase (HGD), leading to accumulation of homogentisic acid (HGA). Over decades, HGA deposits in connective tissue cause ochronosis — a blue-black pigmentation of cartilage, tendons, and sclerae — and leads to severe early-onset osteoarthritis affecting the spine and large joints. Nitisinone (Orfadin), approved in Europe for AKU, significantly reduces HGA levels.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Alkaptonuria trials.
Nitisinone (NTBC) is approved in Europe — trials may focus on dose optimization, long-term joint outcomes, or combination approaches
Urinary homogentisic acid (HGA) excretion is the primary biomarker — 24-hour urine HGA measurement is standard at screening
Joint disease severity scoring (AKU Society's AKU Severity Score Index) is used as an eligibility and outcome measure
AKU is very rare — contact the DevelopAKUre consortium and AKU Society for trial matching assistance
Patient Resources
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