The last day of February is the day designated to focus our attention on rare disease.
The global prevalence of alkaptonuria is 1 per 100,000 to 250,000. The prevalence of the disease in the United States is 1 case in one million population (1). According to the AKU Society and the DevelopAKUre Consortium, the number of alkaptonuria patients in the U.S. is 92. Click here to see a world map of AKU (2).
The patient map for North America has recently been updated. You can click here to view the current version.
There are a number of events both virtual and in-person that are available for you to attend. Here are just a couple for your consideration:
NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments. (in person and virtual. More information here.
Broad Institute Rare Disease Day 2023 | Accelerating Rare Disease Research: Patients as Partners (in person, Cambridge, MA). Register here.
View a Beyond the Diagnosis virtual gallery tour here.
- Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, et al. Natural history of alkaptonuria. N Engl J Med. 2002;347:2111–21. doi: 10.1056/NEJMoa021736.
- Develop AKUre. 950 AKU patients [Internet]. Cambridge (UK): The AKU Society and the DevelopAKUre Consortium: c2014 [cited 15 May 2013].