Duchenne Muscular Dystrophy
Researchers in India are working on developing an affordable treatment for a rare and incurable genetic disorder called Duchenne Muscular Dystrophy (DMD) which affects over 5 lakh people in the country. DMD is a progressive muscle degeneration and weakness caused by alterations of a protein called "dystrophin" that helps keep muscle cells intact, primarily affecting boys, but in rare cases, it can also affect girls.
- The current therapeutic options available to treat DMD are minimal and highly expensive, with costs shooting up to Rs 2-3 crore per child per year and are mostly imported from abroad, making them out of reach for most families.
Collaboration for Research
- The Indian Institute of Technology (IIT) Jodhpur has established a research center for DMD in collaboration with Dystrophy Annihilation Research Trust (DART) Bengaluru and the All India Institute of Medical Sciences (AIIMS) Jodhpur.
- The center aims to develop affordable therapeutics for this rare and incurable genetic disorder. According to Surajit Ghosh, Dean of Research and Development at 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.
Therapeutic Leads for Clinical Trials
- Despite the severity of DMD, it has been neglected due to lack of proper diagnostic tools and treatment. The primary goal of the research team is to develop two therapeutic leads for clinical trials on high priority. The researchers are working on affordable therapeutics for DMD and enhance the efficacy of Antisense Oligonucleotide (AON)-based therapeutics. The AON-based therapeutics' idea is to hide or mask specific exons in a gene sequence.
- The research team is working on a generic version of a utrophin modulator, with further validation in animal models being initiated soon. Additionally, the Duchenne Muscular Dystrophy Drugs Controller General of India (DCGI) has given them the go-ahead to conduct a multicentric clinical trial on Antisense oligonucleotide (AON) based exon skipping in DMD patients. Currently, the research team is also working on reducing the AON-based therapeutic dose through new molecular tags.
Challenges and Solutions
- DMD patients have different forms of mutations at varying positions of the protein, resulting in the production of functionally compromised dystrophin ORF.
- This makes DMD patients need personalized medicine, which can be a challenge for researchers. However, muscle weakness is the principal symptom of DMD, making it a high priority for researchers to develop an affordable treatment.
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The research center for DMD at the Indian Institute of Technology (IIT) Jodhpur is a significant step forward in developing an affordable treatment for Duchenne Muscular Dystrophy. DMD is a rare and incurable genetic disorder that affects over 5 lakh people in India, with current treatment options being minimal and highly expensive. The collaboration between IIT Jodhpur, Dystrophy Annihilation Research Trust (DART) Bengaluru, and the All India Institute of Medical Sciences (AIIMS) Jodhpur aims to develop affordable therapeutics for DMD and enhance the efficacy of Antisense Oligonucleotide (AON)-based therapeutics. The research team is working on developing two therapeutic leads for clinical trials on high priority, and they have made significant progress on the development of a generic version of a utrophin modulator, which will be validated in animal models soon. The team's ultimate goal is to provide an affordable treatment that can slow down the disease progression and extend the life expectancy of DMD patients.
Written by IAS POINT