India is on a quest to discover a "affordable" treatment for the uncommon genetic illness DMD.

 By Swaty Prakash

January 10, 2023, 16:48 IST

If Indian researchers are successful, Duchenne muscular dystrophy, a rare genetic illness, which now has an annual treatment cost in the nation of up to Rs 2-3 crore, may at last have an inexpensive therapy. More than 5 lakh children in India have this deadly and incurable muscular dystrophy, and most families cannot afford the medication since it is so costly and offers so little benefits.

A research centre for DMD has been established by the Indian Institute of Technology (IIT), Jodhpur in collaboration with the All India Institute of Medical Sciences (AIIMS), Jodhpur and the Dystrophy Annihilation Research Trust (DART), Bangalore, according to a report by the news agency Press Trust of India. The center's mission is to provide accessible therapeutic treatments for this uncommon and fatal genetic condition.

"Due to a lack of appropriate theranostic instruments for prompt identification and therapy, this condition has so far gone untreated despite its severity in terms of systemic muscle damage leading to multi-organ failure and death. Our team's main objective is to quickly create two treatment leads for clinical trials "In the publication, Surajit Ghosh, Dean of Research and Development at IIT Jodhpur, was mentioned.

Duchenne muscular dystrophy in detail:

The hereditary illness Duchenne muscular dystrophy (DMD), which affects around 1 in 3,500 male births globally, is an uncommon muscle ailment. Typically, between the ages of three and six, it is identified. DMD is characterised by wasting (atrophy) and weakening of the pelvic muscles, which worsens over time and affects other body muscles.

Since the illness progresses, the majority of those who are affected need a wheelchair by the time they reach adolescence. The development of serious life-threatening consequences, such as heart muscle disease (cardiomyopathy) and breathing problems (respiratory), is possible.

"Although there is currently no cure for DMD, advancements in integrated therapy can halt the disease's development and lengthen the lives of DMD sufferers. Patients with DMD have various types of mutations at various places in the protein, which leads to the creation of dystrophin ORF with impaired functionality "explained Ghosh.

The DMD gene on the X chromosome is altered (mutated) in DMD, and dystrophin is considered to be crucial for maintaining the membrane (sarcolemma) of muscle cells.

Children with DMD have less bone mass and are more likely to fracture certain bones, such the hips and spine. A large number of those affected also exhibit varying degrees of intellectual disability and learning difficulties.

By their late teens, DMD patients may also have additional potentially fatal problems, including as heart muscle weakening and degeneration (cardiomyopathy).

India seeks affordable solutions:

Families of DMD patients are frequently left in a difficult situation with little to no aid accessible since the majority of therapeutic options are not available in India and because therapy is so expensive. In this phase, Indian experts are seeking remedies that might aid the nation's more than 5 lakh suffering youngsters and their families.

The goal of the study is to develop therapies for DMD that are both inexpensive and more effective than those based on antisense oligonucleotides.

Arun Shastry, Chief Scientific Officer, DART, Bengaluru, claims that the AON-based therapy concept involves concealing or masking particular exons, which are segments of DNA or RNA molecules that contain information coding for proteins.

Patients with DMD require individualised medications for their therapies since one or more exons in these patients can be covered up by certain molecules. The genetic utrophin modulator has seen substantial development by Indian researchers, although further animal testing is still required for confirmation.

In addition, the team has been awarded permission by the Indian Duchenne Muscular Dystrophy Drugs Controller General to perform a multicentric clinical trial on exon skipping based on AON in DMD patients.