Alkaptonuria/drug therapy; Clinical Trials as Topic/methods; Clinical Trials as Topic/standards; Compassionate Use Trials; Rare Diseases/drug therapy; Adolescent; Alkaptonuria/genetics; Alkaptonuria/metabolism; Alkaptonuria/urine; Animals; Autopsy; Child; Clinical Trials as Topic/economics; Cyclohexanones/pharmacology; Cyclohexanones/therapeutic use; Disease Models, Animal; Disease Progression; Drug Approval; Endpoint Determination; Female; Homogentisic Acid/metabolism; Humans; Infant; Male; Mice; National Health Programs; National Institutes of Health (U.S.); Nitrobenzoates/pharmacology; Nitrobenzoates/therapeutic use; Observational Studies as Topic; Off-Label Use; Orphan Drug Production; Rare Diseases/genetics; Rare Diseases/metabolism; Rare Diseases/urine; Rats; Sample Size; Tyrosine/metabolism; Tyrosinemias/drug therapy; Tyrosinemias/enzymology; United States; United States Food and Drug Administration/legislation & jurisprudence

Diseases; Genetics; Medical research; Therapeutics