Indian researchers developing treatment for rare genetic disorder 'Duchenne Muscular Dystrophy'

The current therapeutic options available to treat DMD are minimal and highly expensive treatment.

Researchers in India are working on developing an affordable treatment for a rare and incurable genetic disorder called Duchenne Muscular Dystrophy with over 5 lakh cases in the country.

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. The condition is predominantly seen in boys, but in rare cases, it can also affect girls.

The current therapeutic options available to treat DMD are minimal and highly expensive treatment with costs shooting up to Rs 2-3 crore per child a year and are mostly imported from abroad, accelerating dosing costs and putting them out of reach for most families.

The Indian Institute of Technology (IIT), Jodhpur has established a research centre for DMD in collaboration with Dystrophy Annihilation Research Trust (DART), Bengaluru and the All India Institute of Medical Sciences (AIIMS) Jodhpur. The centre aims to develop affordable therapeutics for this rare and incurable genetic disorder.

According to Surajit Ghosh, Dean, Research and Development, IIT Jodhpur, DMD is an X-linked recessive muscular dystrophy affecting roughly one in 3,500 boys, which causes gradual loss of muscle tissue and function eventually leading to wheelchair dependency at approximately the age of 12 years, requirement for assisted ventilation at approximately the age of 20 years and eventually premature death.

Also Read | Pfizer’s haemophilia B gene therapy succeeds in late-stage study

"Currently, there is no cure for DMD, but improvements in integrative treatment can slow down the disease progression and thereby, extend the life expectancy of DMD patients. Patients with DMD have different forms of mutations at varying positions of the protein, resulting in the production of functionally compromised dystrophin ORF,” Ghosh told PTI.