Duchenne muscular dystrophy is a rare hereditary condition for which Indian researchers are finding treatments.

 EDITED BY PTI

updated:08 jan 2023 12:15 PM IST 

             New Delhi, Jan. 8 (PTI) Indian researchers are striving to create a cure that is both effective and economical for the more than 5 lakh instances of Duchenne muscular dystrophy, a rare and fatal hereditary disease.

Due to changes in a protein called "dystrophin," which aids in maintaining healthy muscle cells, Duchenne muscular dystrophy (DMD) is the most prevalent and fatal type of muscular dystrophy. DMD is characterised by progressive muscle degeneration and weakness. Though it seldom happens to girls, the illness is typically encountered in boys.

The existing therapy choices for DMD are few and extremely expensive, with expenses rising to Rs 2-3 crore per kid year and being imported mostly from outside, which accelerates dosage costs and makes them unaffordable for the majority of families.

In partnership with the All India Institute of Medical Sciences (AIIMS) Jodhpur and the Dystrophy Annihilation Research Trust (DART), the Indian Institute of Technology (IIT), Jodhpur has developed a research centre for DMD. The center's mission is to provide accessible medicines for this uncommon and fatal genetic condition.

DMD is an X-linked recessive muscular dystrophy that affects about one in 3,500 boys, according to Surajit Ghosh, Dean, Research and Development, IIT Jodhpur. It causes a gradual loss of muscle tissue and function that eventually results in wheelchair dependence at around age 12, the need for assisted ventilation at around age 20, and ultimately premature death.

The course of the illness can be slowed down and the life expectancy of DMD patients increased, but there is currently no cure for DMD. The synthesis of functionally impaired dystrophin ORF occurs as a result of various types of mutations occurring at various places of the protein in patients with DMD, according to Ghosh, who spoke to PTI.

"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 "Added he.

Scientists claim that the primary sign of DMD is muscular weakness. It can start as early as 2 or 3 years old, initially affecting the proximal muscles (those closest to the body's centre) before progressing to the distal limb muscles (those close to the extremities). The lower external muscles often experience pain before the higher external muscles. The impacted youngster may have trouble running, walking, and leaping.

Other signs include lumbar lordosis, enlarged calves, and a waddling gait (an inward curve of the spine). Later, the respiratory and cardiac muscles are also impacted. Scoliosis and progressive weakening lead to pulmonary function impairment, which can eventually lead to acute respiratory failure.

The goal of the research is to develop DMD treatments that are cheap and to improve the effectiveness of antisense oligonucleotide (AON)-based treatments.

The idea behind AON-based therapeutics, according to Arun Shastry, Chief Scientific Officer, DART, Bengaluru, is to conceal or mask particular exons in a gene sequence. An exon is a segment of a DNA or RNA molecule that contains information coding for a protein.

"AON or molecular patches are particular compounds that can hide one or more exons in DMD patients. DMD patients require personalised treatment as a result of these difficulties. We have come a long way in the creation of a generic utrophin modulator. Soon, more animal model validation will begin "He spoke to PTI.

"We have also been given permission by the Duchenne Muscular Dystrophy Drugs Controller General of India (DCGI) to carry out a multicentric clinical trial on exon skipping based on antisense oligonucleotides (AON) in DMD patients. The study team is now attempting to reduce the therapeutic dosage based on AON using novel molecular tags "Shastry tacked on.

Boys with DMD often did not live much into their adolescent years until recently. However, life expectancy is rising due to improvements in cardiac and respiratory treatment.