Novel disease modifying approach to Duchenne Muscular Dystrophy by immune modulation

Indo-Japan collaborative effort presented in an international webinar

Madurai, September 06, 2022:  Duchenne Muscular Dystrophy (DMD) is a rare genetic disease with no definitive treatment. Dr. Raghavan, Pediatric Neurologist affiliated to JAICARE, Madurai, India and Japanese scientists have developed a safe and novel approach to delay the progression of DMD using an immune modulating biological response modifier glucans  and the clinical findings were reported in an international webinar held to commemorate the World Duchenne Awareness Day 2022 (Sep 7, 2022), participated by scientists, neurologists, parents of patients with DMD, patient support group members and physiotherapists from more than 10 nations including those from Japan, UAE and Vietnam. Dr Yoshitsugu Aoki from National Centre for Neurology and Psychiatry, Tokyo, Japan, who gave the plenary lecture commented that the recent progress in exon skipping therapy to treat DMD has given a big hope to the DMD patients, who earlier didn’t have any definitive method of addressing the genetic defect. He also added that one in every 3500 male births are affected by this rare genetic disease.

Dr. Raghavan, explained that these disease modifying Biological response modifier glucans (BRMG; Neu REFIX Glucan) has a long track record of safety as a food supplement in Japan and the credentials of this unique beta glucans have been proven to decrease the inflammation and fibrosis which are the key elements of manifestation in DMD whose root cause is a genetic defect in production of dystrophin, a regulator of smooth functioning of the muscles. He lauded the Japanese scientists who earlier proved in pre-clinical studies and in healthy volunteers that the Neu REFIX Beta glucans have potentials in controlling inflammation and fibrosis. Their confirmation of safety and beneficial effects in organs like liver in NASH (Non-Alcoholic Steato-Hepatitis) animal models and lipid profile in diabetic animal models helped his team design the clinical study, because these biomarkers are common with DMD. Though the study was conducted only for a short duration of 45 days, the muscle strength and walking trend were encouraging and now he is undertaking a long-term study for six months to further validate the outcome and he indicated that the main objective is to slow down the progress of the disease in a safe manner until a definitive and affordable gene therapy reaches all the affected patients. He also added that each patient has different type of mutation among which currently approved exon skipping therapies cover only about 20% of the affected population.

An improvement in plasma dystrophin which is secreted by the blood vessels is another path-breaking outcome in our study on which, we are now collaborating with Japanese scientists to explore further said Dr Raghavan. According to him, recent literature has started pointing to the pathology in blood vessels as a major cause to DMD, shifting the focus from skeletal muscle. The outcome of the study in DMD also has led to another study in patients with Limb Girdle Muscular Dystrophy (LGMD).

In the virtual event, several patients who have taken part in the study shared their experience. Physiotherapists from Kenya, Tanzania and patients from many countries, shared their experience and insisted a faster solution to be arrived at to tackle the DMD. Dr. Nguyen Thanh Liem, Director of health services of Vin University from Hanoi, Vietnam and Dr Jyothi S. Prabhu, of St Johns research institute, Bangalore, India served as panelists along with Dr Henry Humba, Neurosurgeon from University of Dodoma, Tanzania.

Fr. Vargheesh Antony, Director of Jesuit Antonyraj memorial Inter-disciplinary Centre for Advanced Recovery and Education (JAICARE) who had organized the webinar along with Fr. Danis Ponniah, Provincial of Madurai Jesuit province shared their commitment to offer care to children with disabilities and expressed their willingness to collaborate with like-minded NGOs and parent support groups for the cause of such rare diseases.