Indo-Japanese researchers develop treatment for Duchenne’s Muscular Dystrophy

Subject : Science and technology

Section: Health

Concept :

A team of doctors from Tamil Nadu along with scientists from Japan have developed a disease-modifying treatment for Duchenne Muscular Dystrophy (DMD), a rare genetic disease, using a food additive — a beta-glucan produced by N-163 strain of a yeast Aureobasidium pullulans.

Duchenne Muscular Dystrophy (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

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.

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.