Researchers at IIT Jodhpur, AIIMS and DART in Bengaluru work on a rare but incurable disorder called Duchenne muscular dystrophy (DMD). IIT Jodhpur researchers are working on developing a drug that will cure patients of rare muscular dystrophy (DMD) that affects only a small percentage.
- The current therapeutic options for DMD are minimal and extremely expensive, with costs reaching Rs 2-3 crore per child per year, and are mostly imported from abroad, accelerating dosing costs and putting them out of reach for the majority of families.
- The center aims to create affordable treatments for this rare and incurable genetic disorder.
- According to Surajit Ghosh, Dean of Research and Development, IIT Jodhpur, DMD is an X-linked recessive muscular dystrophy that affects approximately one in 3,500 boys and causes gradual loss of muscle tissue and function, eventually leading to wheelchair dependency at the age of 12 years, the need for assisted ventilation at the age of 20 years, and eventually premature death.
Duchenne Muscular Dystrophy (DMD) is the most common and fatal type of muscular dystrophy, marked by progressive muscle degeneration and weakness due to alterations of a protein called “dystrophin” that helps keep muscle cells intact. This disease is neglected due to a lack of proper theranostic tools for in-time diagnosis and treatment. The researchers are working on affordable therapeutics for DMD and enhancing the efficacy of Antisense Oligonucleotide (AON)-based therapeutics. Due to these challenges, DMD patients need personalized medicine. Despite its severity in terms of systemic muscle impairment culminating in multi-organ failure and death, this disease is a rare and incurable genetic disorder. The center aims to develop affordable therapies for this rare genetic disorder and develop a multicentric clinical trial on antisense oligopeptide-based exon skipping.
Researchers are trying to develop a treatment for a rare genetic disorder that causes paralysis of muscles and eventually death.
DMD is a very rare condition in which muscle cells are affected by a protein that helps them keep their function. It is a rare genetic disorder seen mostly in boys but can also happen to girls in rare cases.
It is difficult to find affordable treatment for DMD since it is extremely costly. The drugs used to cure it are usually sourced from outside the country, thereby increasing the cost of treatment.
IIT Jodhpur has set up a center to develop treatments for a rare disorder called Duchenne muscular dystrophy (DMD), which is incurable. Centre for Research on Duchenne Muscular Dystrophy is a joint venture between IIT Jodhpur and AIIMS Jodhpur, where doctors are working on developing drugs that can be used to treat the disease.
DMD affects roughly one in 3,500 boys, which causes progressively worsening motor skills and reduces their ability to walk and use wheelchairs. This causes them to become dependent on ventilators by 20 years and causes them to have to be ventilated as early as possible.
DMD is incurable, and there is no cure, but several treatment options will prolong the life of those with it. DMD patients have a combination of many different mutations that affect several different amino acids in the dystrophin protein, which cause them to produce disordered forms of dystrophin ORF, which can cause severe muscle weakness.
It is extremely severe, affecting many organs and causing death. There are not enough technically accurate tools to diagnose and treat DMD. “The objective of the research program is to find two leads for early-stage clinical trials that have a high priority,” said Ghosh.
Scientists say that muscular weakness is the main symptom of DMD. It usually affects the muscles that are near the heart and also affects those that are in the lower extremities. Usually, the muscles involved in walking or running are more damaged than those in the upper body. Many children with DMD will have difficulty jumping, running and walking.
Some children with DMD have abnormally large calves, and some people with DMD constantly have problems walking or bending over or twisting their backs while they walk. Later, the heart and respiration muscles are affected as well. Some children become increasingly weak and scoliosiform, which results in impaired pulmonary function, which can lead to acute respiratory failure.
Researchers at IIT Jodhpur are researching treatment options that allow patients to live for as long as they wish.
It is possible to alter genes by modifying amino acid sequences to prevent them from working.
Some proteins can be temporarily disabled by using chemical agents called AON or molecule patches. DMD patients require highly customized medicines because of the different challenges they face. We are close to a drug that may replace the drugs currently used to treat certain disorders. More studies in animals will be carried out to verify the therapeutic potential of AON-based therapeutics.
Moreover, the Indian DMD Drugs Regulatory Authority (DCGI) has given us the go-ahead to carry out a multicenter trial on AON-based drugs that help people skip certain exons in their genomes. We are also working on reducing the dose of AON-based drugs by introducing new tags on the genes that control their functions.
Until recently, boys with DMD did not normally live long beyond their teenage years. There was a time when boys with DMD could not live past their teens; now, with modern cardiac and respiration care, their lifespan has increased.
Researchers at IIT Jodhpur are trying to develop an effective treatment for a rare and incurable disorder called Duchenne Muscular Dystrophy (DMD), in which muscle strength and coordination are affected, which is fatal for approximately 1.5 million people in the country.
DMD is a rare and potentially fatal disorder that causes muscle tissue to degenerate gradually and cause weakness. Treatment options include transplanting muscles from abroad, but such treatments are expensive and difficult to fund.
DMD patients show muscle weakness as the main symptom. It often affects those whose bodies are closest to the center of the body, starting at age 2.
What are the most common symptoms of Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) is a progressive disease that causes muscle weakness and wasting. DMD’s most common symptoms include difficulty walking, running, and climbing stairs; weakness in the pelvic and shoulder muscles; and difficulty breathing. A mutation in the dystrophin gene, which codes for a protein required for muscle function, causes DMD. There is no cure for DMD, but treatments are available to manage symptoms and slow the disease’s progression.
What are the long-term effects of Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy (DMD) is a progressive and fatal muscle disorder. It primarily affects boys and is caused by a mutation in the dystrophin gene. There is currently no cure for DMD. However, treatments available can improve the quality of life for those affected. The life expectancy for someone with DMD is typically around 25 years, though this can vary depending on the severity of the condition.
Though there is no cure for DMD, researchers are working hard to find one. In the meantime, treatments are available to help improve the quality of life for those affected. Physical therapy, occupational therapy, and braces often help with muscle weakness and mobility. Nutrition and diet are also important in helping to maintain muscle mass and strength. There are also several medication options available that can help with some of the symptoms associated with DMD.