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

DMD is a rare genetic disease that affects only male children, with approximately 80,000 patients in India.

July 14, 2023 11:07 am | Updated 11:14 am IST - CHENNAI

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.

K. Raghavan, Department of Paediatric Neurology, Jesuit Antonyraj memorial Inter-disciplinary Centre for Advanced Recovery and Education, Madurai said that DMD was a rare genetic disease that affects only male children. There are approximately 5,000 patients in Japan and 80,000 in India.

“Muscles need lubricant. Dystrophin, an enzyme secreted in the muscles, helps in wear and tear and regeneration of muscles. Because of the genetic disorder, muscles cannot produce dystrophin,” he told reporters on July 10. This damages and weakens the muscles, and patients become wheelchair-bound in their early teens and die prematurely.

“Boys born before 1970 had a median lifespan of around 18 years. After anti-inflammatory medications and steroids, the longevity increased. Disease modifying treatments have prolonged the lifespan but despite that, patients die when they are aged 28 to 30 years,” he said.

Currently available treatments were gene therapy, Exon-skipping and disease modifying agents (anti-inflammatory medicines such as steroids), he said.

The collaboration was led by Dr. Raghavan in India, and led in Japan by Nobunao Ikewaki, Department of Medical Life Science, Kyushu University of Health and Welfare, who undertook basic research and pre-clinical studies in animal models using a novel beta-glucan produced as an exo-polysaccharide by N-163 strain of a yeast Aureobasidium Pullulans commercially available in Japan as a food additive.

The six-month-long clinical study screened 27 children with DMD — 18 in treatment arm and nine in control arm. Along with regular treatment, the participants, all aged above three years, were given the beta-glucan in the form of a food supplement.

“We found evidence of reduction in muscle weakness and muscle damage. The muscle strength of the treatment group improved (determined by Medical Research Council scaling),” Dr. Raghavan said. He added there was no adverse reaction in the participants and it potentially delayed progress of disease without side effects to the liver and kidneys.

Samuel J.K. Abraham, Centre for Advancing Clinical Research, University of Yamanashi-School of Medicine, Chuo, Japan and Pushkala Subramaniam, professor of Immunology, Tamil Nadu Dr. MGR Medical University were part of the collaboration. The results of the clinical trial were published in IBRO Neuroscience Reports, the official journal of the International Brain Research Organisation.

Senior neurologist R. Lakshmi Narasimhan said this is one of the major steps in basic science research in the field of paediatric myology. “This research using beta glucan as a food supplement in reducing DMD may be a boon for patients but requires further validation through a large-scale multi-centric study,” he said.

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In gene therapy itself, the missing link between dystrophin and muscle power is being studied, he said, adding that in this study, while the MRC grading has shown slight improvement, the six-minute walk test showed insignificant relationship between the groups. “It has shown promise in most of the parameters. The missing link between dystrophin and inflammatory markers not translating into muscle power and clinical improvement is still a puzzle. Further research will enlighten the potential of this molecule,” Dr. Lakshmi Narasimhan said. He added that DMD support groups should be brought in to play an active role.

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