Sarah Van Orden, 26, of Lancaster, Pa., who has a rare disease called Morquio syndrome, gets a weekly infusion of essential enzymes that her body cannot make on its own.Every Wednesday, a nurse connects Sarah Van Orden to a tube for seven hours, infusing her with crucial enzymes that her body cannot make because of a genetic mutation.
A new initiative aims to remove that hurdle, providing $97 million in funds and expertise to help researchers test gene therapy in patients with Morquio and seven other ultra-rare diseases as soon as next year. TheThe Morquio trial will be conducted by researchers at Nemours Children’s Health, in Wilmington, where Van Orden, 26, has been traveling since childhood for treatment.
“The idea of having potentially one gene therapy and then never having to do it again would be life-changing for me,” she said.Researchers at Nemours have proposed testing gene therapy in 12 people with Morquio, including 10 children and two adults. But first, they must spend months finalizing the study protocol and other preparations, making use of the funds and expertise from the public-private partnership.
But the flared-out ribs did not go away, and when Van Orden turned 2.5, another physician told her parents she might have a type of skeletal abnormality. Van Orden underwent nine surgeries at Nemours, including the fusion of neck vertebrae to prevent spinal cord damage, and she has now beaten that prognosis by six years.
Morquio and the seven other diseases were picked for a variety of reasons, said Courtney Silverthorn, the foundation’s associate vice president for science partnerships. The conditions all have been extensively studied by academic researchers, with animal models suggesting that gene therapy could be beneficial. Yet they are so rare — occurring in at most a few thousand patients worldwide — that gene-therapy firms have not pursued them.