Central Idea

• Researchers in India are collaborating to develop an affordable treatment for Duchenne Muscular Dystrophy (DMD), a rare and incurable genetic disorder.
• The Indian Institute of Technology (IIT), Jodhpur, is collaborating to develop affordable therapeutics for DMD.

What is DMD?

• DMD is a progressive muscle degeneration disorder caused by alterations in the dystrophin protein.
• It is the most common and fatal type of muscular dystrophy, primarily affecting boys.
• It leads to progressive muscle degeneration, weakness, and eventually wheelchair dependency, assisted ventilation, and premature death.

Symptoms and Impact of DMD

• Muscle Weakness: Muscle weakness is the primary symptom of DMD, initially affecting proximal muscles and later distal limb muscles. Difficulties in jumping, running, and walking are common.
• Other Symptoms: Enlargement of calves, a waddling gait, lumbar lordosis (inward curve of the spine), and later heart and respiratory muscle involvement. Pulmonary function impairment and respiratory failure may occur.

Current Challenges

• Costly treatment: Current therapeutic options for DMD are minimal and expensive, with costs reaching up to Rs 2-3 crore per child per year.
• Limited Treatment Options: The treatments are predominantly imported, making them financially unattainable for most families.

Efforts to Develop Affordable Therapeutics

[A] Antisense Oligonucleotide (AON)-Based Therapeutics

• The IIT Jodhpur researchers are working on enhancing the efficacy of AON-based therapeutics.
• AONs can mask specific exons in a gene sequence, addressing the challenges faced in DMD patients.
• Personalized medicine is necessary due to the variations in mutations among DMD patients.

[B] Clinical Trials and Molecular Tags

• The research team has received approval from the Drugs Controller General of India (DCGI) to conduct multi-centric clinical trials on AON-based exon skipping in DMD patients.
• They are also working on reducing the therapeutic dose of AON through new molecular tags.

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