"The good news is, we're above the clouds. Now we're up to Peak 1 or Peak 2," she said. "The first 10 years of CureDuchenne was getting to base camp. She compared the change she's seen to a climb up Mount Everest. "This is going to give these kids meaningful benefit for 5-plus years," said Chris Curran, who works in the maintenance department for the town of Lewisboro, New York. If scientists can figure out how to give boys like Conner repeat doses, "this could be a solid treatment for them for the rest of their lives." Developing a gene therapyĭebra Miller, who founded CureDuchenne after her son was diagnosed in 2002, has been helping raise money to support treatment development ever since. But the fact that he hasn't lost ground for five years and isn't in a wheelchair as he approaches adolescence defies every expectation for a Duchenne's kid. Now 12-and-a-half, Conner, who improved for a while after his gene therapy treatment, struggles again to climb a flight of stairs. The drugs don't directly affect the underlying cause of the disease. Eventually, muscle cells with the corrected gene may get crowded out and replaced by uncorrected ones.īut everyone agrees that current treatment needs improving. For the last 30 years, steroids have been the primary treatment, leading to bone health issues, short height and increased weight, among other side effects. That means the other two Curran boys – Kyle, Conner's twin, and William, two years younger – aren't affected.įive years ago, Conner became the first patient in a Pfizer clinical trial designed to trigger muscle cells to produce the dystrophin protein. ![]() Jessica doesn't carry the defective gene. In Conner's case, the disease was simply genetic bad luck. But boys have only one X, so they have no backup. If a girl inherits a defective copy of the dystrophin gene, she has a second X chromosome to help her make the protein. Dystrophin essentially acts as a shock absorber. Without that protein, muscles can't repair themselves, so damage accumulates over time.ĭuchenne's is typically genetic, passed down from a mother to a son, because the gene sits on the X chromosome, which also determines sex. ![]() It's caused by a mutation in the dystrophin gene, which makes a protein essential for muscle function. ![]() Not a cure, but a dramatic differenceĭuchenne Muscular Dystrophy affects 12,000 to 15,000 children and young adults in the United States and about 300,000 worldwide. Though still a devastating diagnosis, the trajectory of someone with Duchenne's is suddenly unclear. Now, there are 50 treatments in the pipeline, and the first gene therapy has a chance of winning approval from the Food and Drug Administration next month, promising to transform the future for younger boys with Duchenne's. Gene therapy to address the disease's root cause was a distant dream. Few made it to 25.Įight years ago, when Conner, of Ridgefield, Connecticut, was diagnosed there were just five drugs under development. The treatment of Duchenne's is in the midst of a revolution, bringing hope to a disease that inevitably left boys in a wheelchair around their 10th birthday. Luckily, that's not how things are working out. ![]() In a few years, Conner would lose the ability to walk, then to move his arms and eventually, in his teens or 20s, to breathe. No other future was possible, they were told. Jessica and Chris should enjoy their son as much as they could, the doctor said. When Conner Curran was first diagnosed with Duchenne muscular dystrophy at age 4, his parents were told there was nothing they could do to change his life's course.
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