Pearson syndrome has not been studied in a prospective fashion. Most of what is known about Pearson syndrome is from case reports. Pearson syndrome is a rare mitochondrial disorder and only about 60 patients have been described in these reports. Children typically present in their 1st two years of life (most in infancy) with anemia with or without pancreatitis (inflammation of the pancreas).
The objective of this study is to characterize the natural history of Pearson syndrome.
The purpose of this observational study is to obtain information on the natural history of Pearson syndrome for the purpose of educating the scientific community and for development of potential treatment options through clinical trials.
This study is no longer recruiting patients.