New Delhi: Deeply moved by the struggles of a 20-month-old girl and her parents in his Chandni Chowk constituency, Delhi BJP MP Praveen Khandelwal has written to Prime Minister Narendra Modi, urging the government to formulate a dedicated policy and fast-track access to treatment for LAMA2-related Congenital Muscular Dystrophy (LAMA2-CMD).
LAMA2-CMD is a rare genetic disorder that weakens the muscles responsible for movement, often appearing at birth or within the first months of life. Children affected by the condition may never learn to walk and can experience difficulties with breathing and speaking.
Some also develop spinal deformities such as scoliosis. Khandelwal emphasised that the young girl’s case is part of a wider concern, with approximately 60 children across India reported to be living with the same condition.
In his letter, the MP highlighted that India has a historic opportunity to lead global innovation in healthcare, recalling the nation’s key role in developing COVID-19 vaccines under Prime Minister Modi’s guidance. He also cited a breakthrough by a Japanese biotechnology firm, which has developed a promising CRISPR-based gene therapy for LAMA2-CMD. The Indian Council of Medical Research (ICMR) has already classified this technology as low-risk, creating a window for India to explore its clinical use.
Khandelwal requested expedited approval for the first human clinical trial under the New Drugs and Clinical Trials Rules, 2019, and asked that the Drugs Controller General of India (DCGI) and ICMR collaborate to fast-track the evaluation process.
He further called for LAMA2-CMD to be formally recognised as a separate category under the National Policy for Rare Diseases, 2021, and urged that financial support beyond the current Rs50 lakh limit be considered. He also stressed the importance of partnerships between Indian and international biotechnology institutions to accelerate research in gene therapy.
Saurabh Singh, co-founder and director of the Rare Disease India Foundation, an advocacy group, described Mr. Khandelwal’s initiative as “heartening” and expressed hope that it would lead to tangible support for affected families. “At present, LAMA2-CMD is not covered under the rare disease policy. Funding will be available only once it is formally included,” he noted.
Also called merosin-deficient congenital muscular dystrophy type 1A, LAMA2-CMD is caused by mutations in the LAMA2 gene, which produces proteins that anchor and stabilise muscle fibers. When the gene is defective, skeletal muscles become weak and fragile, leaving children vulnerable to mobility and respiratory challenges.
Despite amendments to the National Policy for Rare Diseases in 2021 allowing one-time financial support, medicines for several rare disorders, including LAMA2-CMD, remain unapproved in India. Advocates point out that a substantial portion of the Rs974 crore allocated for rare diseases has remained unutilised, leaving many children without timely care.
