DuchenneConnect Registry Report [Internet]. 

Rangel, Vanessa; Martin, Ann S.; Peay, Holly L. Version 15. PLoS Currents: Muscular Dystrophy. 2012 Jan 2 [revised 2012 Feb 29]. 

Accuracy of patient self-reported medical history

Numerous studies have been conducted comparing the accuracy of patient self-reported medical histories to their actual medical records.  Generally, accuracy is 80%+ and varies by disorder.

The case for national patient registries

The NIH Office of Rare Disease research workshop generated literature outlining the need for a comprehensive strategy for national patient registries.

Pfizer's Future: A Niche Blockbuster

Wall Street Journal on the shifting market for rare disease therapies.