Alkaptonuria

This research aims to improve understanding of alkaptonuria, a rare genetic disorder where a pigment called homogentisic acid builds up in bones and connective tissue, leading to arthritis, bone fractures, discoloration in the ears and eyes, kidney stones, and heart valve issues. The study seeks to collect detailed medical data on patients of all ages with this condition to support future drug trials and better inform treatment options. Participants diagnosed with or suspected to have alkaptonuria, who are at least two years old, will be evaluated every 2 to 3 years during 3 to 5-day visits at a clinical center. During these visits, they will undergo medical history reviews, physical exams, blood and urine tests, genetic studies, and various imaging procedures including X-rays, ultrasounds, CT scans, and MRIs. Additional consultations for dentistry, ophthalmology, cardiology, and other specialties may occur based on medical needs. Throughout the study, patients will provide blood and urine samples to measure disease markers and organ function, and undergo assessments like hearing tests, lung function tests, and photographs for documentation. The study will track the progression of alkaptonuria using advanced technology such as cardiac CT, MRI, and echocardiograms, aiming to identify clinical outcomes useful for future treatments. Participation may continue over many years with repeated evaluations to monitor disease changes and support future research.