MPs flag stalled rare-disease funding; warn nearly 100 children on life-saving therapy face imminent risk
NEW DELHI: The Indian Medical Parliamentarians Forum (IMPF), a cross-party collective of 45 medical professionals turned parliamentarians, have issued a public health alert, warning that dozens of children with ultra-rare Lysosomal Storage Disorders (LSDs), a rare inherited metabolic conditions caused by a deficiency of specific enzymes, are at immediate risk due to preventable treatment interruptions under the National Policy for Rare Diseases (NPRD 2021). In a letter addressed to Prime Minister Narendra Modi, the Forums Chairperson, Dr Anil Bonde, has called for urgent, time-bound intervention to halt avoidable deaths and ensure uninterrupted access to Enzyme Replacement Therapy (ERT), the only life-saving treatment for many LSD conditions. The BJP Rajya Sabha MP from Maharashtra said nearly 100 patients currently on ERT are at imminent risk of discontinuation as funds have stalled. Over 60 children and young adults have already died due to delays in therapy initiation or breaks in treatment, said the letter, which was also addressed to Union Health Minister JP Nadda. The letter highlighted that of the 60 patients, 20 have died in the last 12 months The Forum, which has MPs from both the Houses as its members, warned that even a brief disruption in ERT can cause acute metabolic crises, irreversible organ damage, and often death - turning every delay into a life-threatening event. Lysosomal Storage Disorders (LSDs) like Gaucher, Pompe, Fabry, and MPS are rare genetic conditions from missing enzymes, causing toxic buildup in cells, leading to severe, progressive multi-system damage (organs, nerves, bones) from infancy to adulthood. The center has notified the National Policy for Rare Diseases (NPRD) in March 2021 to provide affordable care for rare disease patients, categorizing diseases into three groups and establishing Centres of Excellence (CoEs) for treatment, diagnosis, and research, offering financial aid up to 50 Lakhs for curative treatments. However, the Forum said, four years after notification, serious implementation gaps are now costing young lives. Children who were earlier stabilised and progressing well on Enzyme Replacement Therapy (ERT) are relapsing, becoming bedridden, or dying only because treatment has stopped after exhausting the current one-time cap of 50 lakh available under Group 3(a) of NPRD 2021. Families describe the anguish of watching a child regress despite an approved therapy, an existing policy and budgetary allocations, Dr Bonde said. He said clinical experience and published evidence show that even short interruptions in ERT can lead to irreversible organ damage and, in many cases, death within months. In this context, the one-time ceiling of Rs. 50 lakh, without a mechanism for continuation funding, is proving inadequate for lifelong conditions where uninterrupted therapy is medically essential. The result is a tragic paradox: patients are dying despite a notified policy, established CoEs and available therapies, he added. The Forum suggested waiver or extension of the Rs. 50 lakh cap for existing Group 3(a) LSD patients; immediate approval of therapy for all eligible patients who have already exhausted the ceiling, so that no child or adult currently on treatment is forced into regression or death for want of funds. They also suggested to the prime minister to create a continuum-of-care funding framework under NPRD 2021: and to direct the Union Health Ministry, in consultation with the Ministry of Finance and NITI Aayog, to design a sustainable mechanism for uninterrupted, long-term therapy support for high-risk Group 3(a) patients. This could include a distinct pathway within NPRD 2021 for DCGI-approved therapies with strong evidence of clinical efficacy, ensuring that once a patient is initiated on ERT, treatment is not abruptly withdrawn due to administrative caps, the letter said. The Forum also suggested streamlining utilisation and governance of existing rare-disease funds; addressing administrative bottlenecks that delay treatment and result in under-utilisation or expiry of sanctioned funds. A strengthened oversight framework, with clear timelines and accountability for CoEs and implementing agencies, will help ensure that every rupee reaches the intended patient, the letter said. Highlighting that no child or adult with an ultra-rare Lysosomal Storage Disorder is denied life-saving treatment solely for want of continuity of care, Dr Bonde said, A timely decision in this matter will save many young lives and reaffirm India's commitment to leaving no vulnerable patient behind on our journey towards a Viksit Bharat.
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