Children are the most affected with muscular dystrophy disease and lose their life to this disease, as so far there is no prompt medication or treatment available for muscular dystrophy.
Most of affected individuals are boys as this is a genetic disorder linked to mutation in x linked gene (dystrophin gene) which code for synthesis of muscle protein dystrophin. Female child may be a carrier of this defective gene but do not get disease as the defective gene is not expressed in them as Y chromosome is not present in female.
Parents of the children’s affected with this disease have to see their child loosing life to this disease, in such situation a drug Eteplirsen has shown positive outcome in clinical trials which has shown a protective capability against degeneration of skeletal muscles by keeping the amount of protein dystrophin to a higher level.
Dystrophin is protein which responsible for holding skeletal muscle fiber actin fixed to muscle membrane and which in turn is held in place with connective tissue like bone and tendons, dystrophin is also responsible for normal contraction of actin myofibrils and regulation of calcium in the of skeletal muscles, absence of dystrophin or lower amount of dystrophin is responsible for damage of mitochondria as calcium rushes inside the muscle cell membrane , causing increase in amount of water inside the cell, which triggers stress induced free radicals (reactive oxygen species ) which are responsible for damage to healthy muscle tissue.
Lower or defective formation of muscle protein dystrophin is responsible for consistent degeneration and weakening of skeletal muscle tissue over the period of time leading to loss of ability to move the affected part of the body, which may involve , lower limbs and hand or both .
This disorder may affect on other body system too which include gastrointestinal tract or system eyes, brain and heart, also nervous system and hormone regulating systems like endocrine glands too are affected.
Information about Eteplirsen cilical trial :
Drug Eteplirsen was primarily studied for its safety and effectiveness in patients affected with Duchenne muscular dystrophy (DMD) . Endpoint of the study were assessed by amount of dystrophin positive fibers in muscles of treated individuals by immunohistochemistry (IHC) and patients ability to walk as compared with start of study . Clinical trial results showed that the boys who received drug Eteplirsen showed increase in walking score (six minute walking score was increased). patients could walk longer distance as compared to the distance they could in the beginning of the study .
Information about drug Eteplirsen :
The drug Eteplirsen is a systemic phosphorodiamidate morpholino oligomer it is designed to target mutations over the gene which codes for protein dystrophin so that the normal production of protein dystrophin occur , the drug Eteplirsen work by allowing biosynthesis path way for normal synthesis of protein dystrophin by skiping faulty mutations on x linked gene responsible for dystrophin sysntesis. The pathway is also known as axon skiping.
The drug Eteplirsen is developed by Sarepta Therapeutics.