Mystery Clot Reveals a Helpful Mutant Gene in Hunt for a Cure
- Spark Therapeutics developing gene-based hemophilia treatment
- Ten-year-old discovery bears fruit in small human trial
This article is for subscribers only.
When he first saw the results from his 23-year-old patient with a painful leg clot, Paolo Simioni assumed the test was botched and angrily told his lab technician to repeat it. But the number came back the same: A key protein in the man’s blood was almost eight times more powerful than normal.
Almost 10 years later, Simioni’s discovery in Italy has become a promising treatment under development by Spark Therapeutics Inc. Part of a new field called gene therapy, it may soon offer a new option for hemophilia B, potentially relieving thousands of patients of the need for expensive, time-consuming, and sometimes unreliable treatments.