Doctors Plan Bold Test of Gene Therapy on Boys with Muscular Dystrophy

Disir

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n 1990, a British muscular dystrophy researcher, Kay Davies, described the unusual case of a 61-year-old man who by rights should not have been alive, given what was known of the disease at that time.

The muscle wasting disease is caused by mutations to the dystrophin gene. Even just one wrong genetic letter can mean early death. Remarkably, the man Davies described was missing 46 percent of the gene. Yet there he was, still walking with the aid of a stick in his seventh decade.

Now that 27-year-old discovery is leading to what could be the best chance to treat—and maybe stop—a serious form of the disease, Duchenne muscular dystrophy.

Using mini-genes inspired by the man’s genetic defect, three U.S. teams say they are ready to try to treat Duchenne with gene therapy. The first study could begin as soon as next month at Nationwide Children’s Hospital in Columbus, Ohio, with the backing of a biotech firm, Sarepta Therapeutics, and a charity, Parent Project Muscular Dystrophy.

Two other tests on children, one organized by Solid Biosciences, of Cambridge, Massachusetts, and the other by drug giant Pfizer, are slated to begin by year’s end and in the first half of 2018, respectively.
Gene therapy offers shot at life for boys with muscular dystrophy

This is would be fantastic if it works.
 
Baby Gene Therapy Study Offers Hope for SMA...
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Baby Gene Therapy Study Offers Hope for Fatal Muscle Disease
November 01, 2017 | WASHINGTON — A first attempt at gene therapy for a disease that leaves babies unable to move, swallow and, eventually, breathe has extended the tots' lives, and some began to roll over, sit and stand on their own, researchers reported Wednesday.
Only 15 babies with spinal muscular atrophy received the experimental gene therapy, but researchers in Ohio credited the preliminary and promising results to replacing the infants' defective gene early - in the first few months of life, before the neuromuscular disease destroyed too many key nerve cells. "They all should have died by now, said Dr. Jerry Mendell of Nationwide Children's Hospital, who led the work published by The New England Journal of Medicine. Yet, "those babies are still improving.” Mendell cautioned that much more study is needed to prove the gene therapy works and is safe. Nor is it clear whether the replacement gene's effects would wane over time.

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Dr. Albert Maguire checks the eyes of Misa Kaabali, 8, at the Children’s Hospital of Philadelphia, Oct. 4, 2017. Misa was 4 years old when he received his gene therapy treatment.​

Spinal muscular atrophy occurs in about 1 in 10,000 births, and those with the most severe form, called SMA Type 1, rarely reach their second birthday. They can be born looking healthy but rapidly decline. One study found just 8 percent of the most severely affected survived to age 20 months without needing permanent mechanical ventilation to breathe. There is no cure. The first treatment wasn't approved until last December _ a drug named Spinraza that requires spinal injections every few months. The experimental gene therapy approach aims for a one-time fix.

What goes wrong

Spinal muscular atrophy is caused when a mutated gene can't produce a protein crucial for survival of motor neurons, nerve cells in the spinal cord that control muscles. Some children carry extra copies of a backup gene that produces small amounts of the vital protein, and thus have much milder forms of the disease.

Gene replacement

Scientists loaded a healthy version of the gene into a virus modified so it couldn't cause illness. Then 15 babies got a one-time intravenous injection. The virus carried the healthy gene into motor neurons, where it got to work producing the protein those nerve cells require to live. Three babies received a low dose of the gene therapy, as a first-step safety precaution. The remaining 12 got a high dose.

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