India on a mission to find ‘affordable’ cure for rare genetic disorder DMD

With no treatment and minimal therapeutic solutions globally, Duchenne Muscular Dystrophy entails a treatment cost of over Rs 2-3 crore annually

If Indian scientists are successful in their efforts, there could be finally an affordable treatment for Duchenne Muscular Dystrophy, a rare genetic disorder whose annual treatment cost in the country right now is as high as Rs 2-3 crore annually. In India, over five lakh children are suffering from this fatal and untreatable muscle dystrophy and since the treatment and medicines are minimal and highly expensive, the treatment remains out of bounds for most of the families.

According to a report by news agency Press Trust of India, The Indian Institute of Technology (IIT), Jodhpur has established a research centre for DMD in collaboration with Dystrophy Annihilation Research Trust (DART), Bangalore, and All India Institute of Medical Sciences (AIIMS) Jodhpur. The centre aims to develop affordable therapeutic solutions for this rare and incurable genetic disorder.

"Despite its severity in terms of systemic muscle impairment culminating into multi organ failure and death, this disease is so far neglected due to lack of proper theranostic tools for in-time diagnosis and treatment. The primary goal of our team is to develop two therapeutic leads for clinical trials on high priority," Surajit Ghosh, Dean, Research and Development, IIT Jodhpur, was quoted as saying in the report.
All about Duchenne Muscular Dystrophy:

Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area which gradually progresses and involves the other muscles of the body.

The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties.

"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 said.

DMD is caused by changes (mutations) of the DMD gene on the X chromosome, and dystrophin is thought to play an important role in maintaining the membrane (sarcolemma) of muscle cells.

Children with DMD have reduced bone density and an increased risk of developing fractures of certain bones, such as hips and spine. Many affected individuals also show varied degrees of intellectual impairment and learning disabilities.

By the late teens, DMD patients may also suffer from additional potentially life-threatening complications including weakness and deterioration of the heart muscle (cardiomyopathy).

Affordable solutions is India's goal:

Since most of the therapeutic solutions are not available in India and due to the excessive treatment costs involved, families with DMD patients are often in a lurch and with no or negligible help at hand. With this step, Indian researchers are looking for solutions that may help over 5 lakh suffering children and their families in the country.

The researchers are working on affordable therapeutics for DMD and enhance the efficacy of Antisense Olignoneucleotide-based therapeutics.

According to Arun Shastry, Chief Scientific Officer, DART, Bengaluru, the AON-based therapeutic idea is to hide or mask specific exons (a segment of a DNA or RNA molecule containing information coding for a protein) in a gene sequence.

Since in DMD patients, one or more exons can be masked with specific molecules, patients need personalised medicines for their treatments. While the Indian scientists have made significant progress on the genetic version of the utrophin modulator, they need to now conduct animal testing for further validation.

Besides, the Duchenne Muscular Dystrophy Drugs Controller General of India has given the team a go-ahead to conduct multicentric clinical trial on AON based exon skipping in DMD patients.

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