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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

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.

Simioni’s young patient had a tiny change in his DNA that intensified the power of a protein called factor IX. In him, the “super factor IX” caused his blood to clot too easily. But for 26,000 people in the world with hemophilia B, lack of the protein leaves them vulnerable to extreme bleeding where minor injuries can become life-threatening.

“I immediately realized the importance of this condition in a completely different context, which was gene therapy,” said Simioni, head of the thrombosis center at the University of Padua. “This might be a real treatment for hemophilia B.”

This month, Spark and its partner, the pharmaceutical giant Pfizer Inc., released data showing that in 10 hemophilia B patients receiving the gene treatment, the average annual number of bleeds fell 96 percent, to less than one a year. Since entering the trial, nine of the patients haven’t had to get infusions of the protein -- a current standard of care, according to company research presented at a medical meeting this month. Spark and Pfizer are planning to move the therapy into final-stage trials.

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The company is also developing treatments for blindness and several neurodegenerative diseases. Success in any of those areas could give the $1.5 billion-valuation company a...