{"page":"\u003clink rel=\"stylesheet\" href=\"https://lessonplanet.com/assets/packs/css/resources-c03aa079.css\" /\u003e\n\u003clink rel=\"stylesheet\" href=\"https://lessonplanet.com/assets/packs/css/lp_boclips_stylesheets-517835be.css\" media=\"all\" /\u003e\n\u003cdiv data-title='Hope for young boys who suffer from a crippling muscle wasting disease' data-url='/boclips/videos/5c54beafd8eafeecae13d810' data-video-url='/boclips/videos/5c54beafd8eafeecae13d810' id='bo_player_modal'\u003e\n\u003cdiv class='boclips-resource-page modal-dialog panel-container'\u003e\n\u003cdiv class='react-notifications-root'\u003e\u003c/div\u003e\n\u003cdiv class='rp-header'\u003e\n\u003cdiv class='rp-type'\u003e\n\u003ci aria-hidden='true' class='fai fa-regular fa-circle-play'\u003e\u003c/i\u003e\nVideo\n\u003c/div\u003e\n\u003ch1 class='rp-title' id='video-title'\u003e\nHope for young boys who suffer from a crippling muscle wasting disease\n\u003c/h1\u003e\n\u003cdiv class='rp-actions'\u003e\n\u003cdiv class='mr-1'\u003e\n\u003ca class=\"btn btn-success\" data-posthog-event=\"Signup: LP Signup Activity\" data-posthog-location=\"body_link_boclips\" data-remote=\"true\" href=\"/subscription/new\"\u003e\u003cspan\u003e\u003cspan\u003eGet Free Access\u003c/span\u003e\u003cspan class=\"\"\u003e for 10 Days\u003c/span\u003e\u003cspan\u003e!\u003c/span\u003e\u003c/span\u003e\u003c/a\u003e\n\u003c/div\u003e\n\u003c/div\u003e\n\u003c/div\u003e\n\u003cdiv class='rp-body'\u003e\n\u003cdiv class='rp-info'\u003e\n\u003cdiv aria-label='Hide resource details' class='rp-hide-info' role='button' tabindex='0'\u003e\u0026times;\u003c/div\u003e\n\u003ci aria-label='Expand resource details' class='rp-expand-info fai fa-solid fa-up-right-and-down-left-from-center' role='button' tabindex='0'\u003e\u003c/i\u003e\n\u003ci aria-label='Compress resource details' class='rp-compress-info fai fa-solid fa-down-left-and-up-right-to-center' role='button' tabindex='0'\u003e\u003c/i\u003e\n\u003cdiv class='rp-rating'\u003e\n\u003cspan class='resource-pool'\u003e\n\u003cspan class='pool-label'\u003ePublisher:\u003c/span\u003e\n\u003cspan class='pool-name'\u003e\n\u003cspan class='text'\u003e\u003ca data-publisher-id=\"30356011\" href=\"/search?publisher_ids%5B%5D=30356011\"\u003eCurated Video\u003c/a\u003e\u003c/span\u003e\n\u003c/span\u003e\n\u003c/span\u003e\n\u003c/div\u003e\n\u003cdiv class='rp-description'\u003e\n\u003cspan class='short-description'\u003eLondon, UK, May 11, 20091. Mid shot father and sons walking past railings2. Close pull out rear of electric tricycle4. Father and sons entering school rear view5. Saul, brother and father entering school (front view)6. Wide rear view of...\u003c/span\u003e\n\u003cspan class='full-description hide'\u003eLondon, UK, May 11, 2009\u003cbr/\u003e1. Mid shot father and sons walking past railings\u003cbr/\u003e2. Close pull out rear of electric tricycle\u003cbr/\u003e4. Father and sons entering school rear view\u003cbr/\u003e5. Saul, brother and father entering school (front view)\u003cbr/\u003e6. Wide rear view of group entering class\u003cbr/\u003e7. Wide of classroom shot through window\u003cbr/\u003e8. Close side view of Saul in class (shot through window)\u003cbr/\u003e9. Mid shot of Saul at desk\u003cbr/\u003e10.SOUNDBITE: (English), Nick Catlin, CEO Action Duchenne and father of Saul\u003cbr/\u003e````You can see how well Saul is doing, relatively well, Saul is doing at the moment. He rides is scooter into school, but he can, he can still walk. But the prognosis is very severe, so in two or three years he's going to be off his feet in a wheelchair. By the time he's into mid to late teens he's going to be virtually completely paralyzed. This is a very, very severe and rapid muscle-wasting disease.''\u003cbr/\u003e11. Close move up of child writing \u003cbr/\u003e12. Close up child's face\u003cbr/\u003e13. Wide of children's hands being raised in class\u003cbr/\u003e14. Close Saul's face\u003cbr/\u003e15.SOUNDBITE: (English), Nick Catlin, CEO Action Duchenne and father of Saul\u003cbr/\u003e````We need things in the next two, three, maximum five years. Within, within five years, you know, Saul's going to be, you know, thirteen, fourteen, he's going to begin to really lose a great deal of the muscle that, that he already has so it's a race against time. We need it now.''\u003cbr/\u003e16. Mid shot of Saul in class shot through window\u003cbr/\u003e17. Close of Saul's face \u003cbr/\u003e18. Mid pan from Saul to teacher\u003cbr/\u003e19. SOUNDBITE: ( English), Saul Catlin, Duchenne muscular dystrophy patient \u003cbr/\u003e````I can't walk that far, and, and I can't play football and I can't do the things what I want to do. And it's very unfair that my brother and sister can do football but I can't.''\u003cbr/\u003e20. Mid shot of Professor Francesco Muntoni walking into office\u003cbr/\u003e21. Wide of Professor shot through window in door\u003cbr/\u003e22. Close of face\u003cbr/\u003e23. UPSOUND: (English), Professor Francesco Muntoni, paediatric neurologist, Institute of Child Health\u003cbr/\u003e\"What the problem is with the majority of people with Duchenne is that they are missing one, or a number of exons.\"\u003cbr/\u003e24. Various close up of graphic on computer\u003cbr/\u003e25.SOUNDBITE: (English), Professor Francesco Muntoni, paediatric neurologist, Institute of Child Health\u003cbr/\u003e\"It means that every individual already in a wheelchair, who is clearly relying on his respiratory muscle to breathe, on his trunk muscle to sit, on his arm muscle, or hand muscle to operate the wheelchair, will have muscles that could be helped, by the intervention and therefore it would be a not an unrealistic expectation that there could be an improvement of ten, fifteen per cent of those muscles that are still working. I think it would be unrealistic to expect that some of the muscles that are already very  weak, such as some of the leg muscle and so on will regain the function that was lost perhaps five, or ten years before. That I think will not happen.\"\u003cbr/\u003e26. Close pan down of microscope\u003cbr/\u003e27. Wide of research assistant at microscope\u003cbr/\u003e28. Close up of face at microscope\u003cbr/\u003e29. Close pull out of microscope and assistant\u003cbr/\u003e30. Cross section of muscle cells from healthy \u003cbr/\u003eperson  \u003cbr/\u003e31. Cross section of muscle cells from Duchenne patient \u003cbr/\u003e32. Move in on cross section of muscle cells after exon skipping treatment\u003cbr/\u003eAPTelevision\u003cbr/\u003eLondon, UK, May 11, 2009\u003cbr/\u003e33. SOUNDBITE: (English), Professor Francesco Muntoni, paediatric neurologist, Institute of Child Health\u003cbr/\u003e\"If we had to do it, say there are seventy nine exons, if we had to do what we are doing, for one for each seventy nine I think it would be a disaster.\"\u003cbr/\u003e34. Various of research assistant in laboratory \u003cbr/\u003e35. Close up of pipette extracting solution from plastic vial\u003cbr/\u003e36. Wide of research assistant\u003cbr/\u003e37. Close up of muscle cells being injected into device to test for presence of dystrophin \u003cbr/\u003e38. Close up of paper showing smears of sample contents\u003cbr/\u003e39. Close up of box being opened and assistant raising transparent sheet showing presence of proteins\u003cbr/\u003e40.SOUNDBITE: (English), Carl Adkin, Researcher, Neuromuscular Unit, Institute of Child Health\u003cbr/\u003e````What you can see here is when we've probed for the dystrophin protein in a sample from a normal person, the dystrophin protein is present. In a patient before the sample, there is no dystrophin protein, and after the treatment the dystrophin protein has been replaced, and we can detect that.''\u003cbr/\u003e41. Close up of transparent sheet showing presence of proteins\u003cbr/\u003e42. Wide of Saul's electric tricycle \u003cbr/\u003e43. Wide of classroom \u003cbr/\u003e44. UPSOUND: (English), Saul Catlin, Duchenne muscular dystrophy patient (Close pull out of Saul's face in class)\u003cbr/\u003e\"I've got thirty-two.\"\u003cbr/\u003e45. Pull out Saul\u003cbr/\u003eScientists in the United Kingdom are testing a drug which they hope will stop \u003cbr/\u003ea crippling muscle wasting disease from destroying the lives of thousands of young boys.\u003cbr/\u003eGene therapy allows the body to overcome a mutation which leads to Duchenne muscular dystrophy.\u003cbr/\u003eBoys with the disease are likely to die young unless a treatment is found.\u003cbr/\u003eThis is Saul.\u003cbr/\u003eHe's almost nine years old and he enjoys riding to school on his electric bike.\u003cbr/\u003eSoon though, he won't have a choice. \u003cbr/\u003eFour years ago doctors told Saul's parents he had Duchenne muscular dystrophy (DMD), a devastating disease which wastes the muscles.\u003cbr/\u003eSaul's family fears that by the time he's a teenager he won't even be able to operate this bike, by then he could be completely paralysed.\u003cbr/\u003eWorse still, Saul will be considered lucky if he makes it past his fortieth birthday, because, according to the Muscular Dystrophy Association, it is rare for people suffering from DMD to live beyond their early thirties.\u003cbr/\u003eSo far there is no cure for Duchenne muscular dystrophy and Saul has been forced to take steroids which have already thinned and distorted his bones.\u003cbr/\u003eHe gets back pain and he has to make regular visits to the hospital where he is treated with yet more drugs. \u003cbr/\u003eSaul's father, Nick Catlin, is frustrated because he can't change the course of his son's life.\u003cbr/\u003eCatlin has become chief executive officer of Action Duchenne, a British charity which raises cash to fund research into the disease.\u003cbr/\u003eHe says he's desperate to ensure there is an effective drug on the market for boys like Saul. \u003cbr/\u003eAccording to Catlin, Duchenne is such an aggressive disease that he and other campaigners feel as though they're in a race against time to find an effective treatment, if not a cure.\u003cbr/\u003eHe and many parents like him are pinning most of their hopes on a scientific team led by this man at the United Kingdom's Institute of Child Health.\u003cbr/\u003eProfessor Francesco Muntoni is one of several scientists around the world investigating whether a technique called 'exon skipping' can stop the disease.\u003cbr/\u003eDuchenne is the most common and most severe form of muscular dystrophy. \u003cbr/\u003eIt is caused by a genetic mutation which prevents patients from making the protein called dystrophin.\u003cbr/\u003eWithout this protein the muscles break down and become weaker.\u003cbr/\u003eGirls can carry the gene which causes the disease, but they rarely show symptoms.\u003cbr/\u003eExon skipping is designed to overcome this genetic defect. \u003cbr/\u003eTo make dystrophin the muscles' cells read the instructions, or genetic code from the dystrophin gene.\u003cbr/\u003eAccording Professor Muntoni the genetic code is like an line of blocks, each containing information to help build the protein.\u003cbr/\u003eBut in people with Duchenne, a bit of genetic code, or one of these blocks is missing. \u003cbr/\u003eScientists like Professor Muntoni call this error an out-of-frame deletion. \u003cbr/\u003eThis error means the muscle cell can't read the instruction to make dystrophin and the muscle eventually begins to waste away.\u003cbr/\u003eApart from causing paralysis, when the muscles decay, the disease attacks the respiratory system, making it difficult to breathe, even the heart can fail.\u003cbr/\u003eAccording to Action Duchenne 75 percent of all Duchenne deaths are as a result of respiratory infections, the rest are due to heart failure.\u003cbr/\u003eFor the experimental therapy carried out here, researchers inject a tiny patch of genetic material intravenously. \u003cbr/\u003eThis patch removes a specific segment of the genetic code from what the cell can see. \u003cbr/\u003eThis allows muscle cells to read the rest of the genetic code and produce the dystrophin protein.\u003cbr/\u003eThe result can be seen in a cross section of muscle fibres when viewed on the laboratory's microscope slides.\u003cbr/\u003eIn samples from a healthy person, dystrophin looks like the mortar which keeps bricks together. \u003cbr/\u003eOn the slides it shows up as red borders around muscle cells, but in an untreated Duchenne patient these borders are missing because the patient has never been able to produce the protein.\u003cbr/\u003eAnother slide shows the effect of exon skipping treatment on a child with DMD.\u003cbr/\u003eThe red borders again signal that muscle cells are making dystrophin. \u003cbr/\u003eDespite the apparent, initial success of the study, the doctors stress that this genetic therapy only works well if there is enough healthy muscle to preserve.\u003cbr/\u003eMuntoni cautions against too much optimism because it's unlikely to be effective on muscle where the patients has suffered DMD for many years and where there is already a lot of scar tissue.\u003cbr/\u003eHe also believes that for the foreseeable future, patients may have to continue taking steroids in addition to the genetic therapy.  \u003cbr/\u003eUntil this year the experiments involved individual localised injections, but this simply isn't a practical long term option because the drugs used in the genetic patch only last a few weeks. \u003cbr/\u003eA trial underway now is assessing whether it is safe and effective to deliver the drug to the whole body simultaneously through an intravenous injection, although the patients would have to continue taking the medicine throughout their lives.\u003cbr/\u003eMuntoni's team hopes that once the particular treatment they are testing is shown to be effective, regulators will automatically allow it it to be used for all the mutations which cause Duchenne.\u003cbr/\u003eHe says if they are forced to go through the long and cumbersome process of clinical trials for every genetic flaw that causes the disease, this potentially life saving medicine will never reach the children who desperately need it.  \u003cbr/\u003eMuntoni believes this would be a disaster for them.\u003cbr/\u003eThe team here is still optimistic about the future for DMD boys.\u003cbr/\u003eThat's because even basic medical care, including steroid and early cardiac screening, has raised the average age of death in the London area from sixteen to twenty-five (according to the Institute of Child Health)\u003cbr/\u003eA quarter of Duchenne sufferers in London now survive beyond age of forty. \u003cbr/\u003eSaul's family hope he will be among those survivors.\u003cbr/\u003eIt's estimated that Duchenne Muscular Dystrophy effects one in every 3,500 boys globally, according to Action Duchenne.\u003cbr/\u003e\u003c/span\u003e\n\u003c/div\u003e\n\u003cdiv class='action-container flex justify-between'\u003e\n\u003cbutton aria-expanded='false' aria-label='Read more description' class='rp-full-description' type='button'\u003e\n\u003ci 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