IntroductionDuchenne muscular dystrophy, also known as DMD, is a serious inherited genetic condition with no cure, which becomes evident in young males, between the ages of 1 and 6 years . This disorder results from a disease-changing mutation in the DMD gene, the third largest gene in the body, responsible for a muscle protein called dystrophin. This complex protein is vital to the function, structure and protection of muscles and muscle fibers. The mutation of this gene causes damage to skeletal and heart muscles as they repeatedly contract and relax. As this damage continues, muscle cells weaken and die, wearing down the muscle and causing heart problems at an early age. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay DMD is evident in approximately 1 in 3,500 early childhood boys prompting scientists, doctors and pharmaceutical companies around the world to collaborate and develop a life-changing cure for these boys. With the help of financial aid and sharing of relevant data with international conventions, recommendations, innovative technologies and relevant research, companies and doctors such as "Sarepta", "Solid Biosciences" and Dr. Jerry Mendell were able to conduct three individual studies trials using gene therapy. In each study, carrier-based forms of microdystrophin were administered to patients, showing signs of hope in discovering a cure for Duchenne muscular dystrophy. The SHE concept explored in this report is “Communication and Collaboration” and specifically the role this concept has played in the application of this revolutionary therapeutic technique. The diagnosis of DMD is made by examining the patient's weakness, developmental delay, elevated serum creatine kinase (an enzyme released by damaged muscles), and confirmed by genetic testing and muscle biopsies. Current treatment of the disease through corticosteroids, bisphosphonate treatments, and other drugs aims to slow the onset of cardiomyopathy, prolong walking, and prevent bone density loss. Exondys 51 is the only drug approved in both America and the UK for the direct treatment of DMD as it is "designed to override the mutation in the DMD gene" but only works for a small number of people with a specific mutation. Thanks to advances in gene transfer technology, theories communicated by scientific communities around the world can finally be put into action as gene therapy has become a possibility for those suffering from Duchenne muscular dystrophy. Gene therapy aims to cure genetic diseases by correcting mutated genes at the molecular level in a clinical setting. This manipulation and replacement of the DMD gene is accomplished using an adeno-associated virus (AAV) carrying a micro- or mini-dystrophin. Since dystrophin is the third largest gene in the body, it initially seemed too large to be carried by a vector since it is three times larger than can fit into the vector, but scientist Jeff Chamberlain developed a micro-dystrophin and a mini-dystrophin design that has 17-48 exons remaining. The development and results of micro-dystrophin through the collaboration of scientists have allowed international pharmaceutical companies such as Solid Biosciences, Sarepta, Pfizer and doctors to undergo clinical trials enrolling patients to trial the new treatment. In these studies, the genes that cause the disease have been eliminated from adeno-associated viruses and replaced with micro-dystrophin to be injectedin the patient's arm. The virus then travels into the cell membrane and transfers genetic information ready for dystrophin protein synthesis. Risks associated with this therapy include an unwanted attack by the immune system on the vectors, damage to healthy cells, and increased infection caused by the vectors returning to their natural habitat. original shape. The Sarepta Therapeutics clinical study was conducted nationwide at Children's Hospital in Columbus by Dr. Jerry Mendell and in collaboration with the non-profit organization "Parent Project Muscular Project", this study received a $2.2 million grant to finance the trial. This funding contributed to the production of the vectors and the costs for study participants who received the new treatment. In this study, twelve patients from the two cohorts aged between 3 months and 3 years and between 4 and years of age were administered a dose of microdystrophin intended for 60-70% of the DMD population. This study found that after 90 days there was an increase in the amount of microdystrophin in the muscles of all patients, a significant decrease in the enzyme creatine kinase (CK), and no serious side effects were found. All the results of this clinical study show a positive outlook on the developments of gene therapy as a treatment for Duchenne muscle therapy. These findings have been verified and reviewed by the Food and Drug Administration in the United States and the European Medicines Agency in the United Kingdom and, upon reporting, will allow for further investigation of the treatment internationally. The use of gene therapy to treat Duchenne muscle therapy has not only created hope for a cure for the genetic disease in global scientific communities, but also has the potential to change the quality of life of young boys around the world who struggle every day to survive. complete basic tasks. Mendell and his team at Nationwide Children's Hospital recommended further trials of this treatment before it is applicable to all DMD sufferers because the participants who took part in the trial had only mild muscle atrophy. As soon as further investigations are completed and the treatment is approved by the FDA, EMA and TGA, communication must take place between scientists, doctors and pharmaceutical companies internationally for the implementation of gene therapy in clinical practice. For families with a child diagnosed with Duchenne muscular dystrophy, it can be distressing to see their child have difficulty standing; walking, jumping and running as their muscles weaken but they also have the possibility that their heart muscles may fail. This loss of the ability to walk occurs between the ages of 7 and 13, and death is common in teenagers and early twenties. Any chance of seeing your child gain normal movement is extremely important as they may drop out of physical activities a child participates in, such as team sports, which are also important for social interactions. It is fair to say that for the average family income, such a treatment is unachievable even if the treatment appears to be extremely beneficial to patients. This was seen after the Sarepta and Mendell study as in January at the beginning of the study the children were hardly able to climb a flight of stairs holding on to the handrail, but 90 days after the treatment they were able to run easily, ride a scooter and climb stairs (Rabinowitz, 2018). Thanks to the collaboration with the Parent Project Muscular Duchenne, these children were able to receive a subsidy to take part in the study, but for any other family who.