• paying increased attention to rare diseases; allocation for treatment hiked to Rs 82 crore, up from zero just three years ago
• Successfully meeting the challenge of SMA would provide a model for effectively tackling other rare diseases in the country

Rare diseases are receiving increased attention from Indian Government in recent years, with budgetary support for treatment of patients jumping from zero just three years ago to Rs 82 crores now. This was said by Dr. L Swasticharan, Addl. DDG with DGHS, Ministry of Health & Family Welfare (MoH&FW) while speaking at SMArtCon2024, a two-day National Conference on Spinal Muscular Atrophy (SMA) held in Gurugram during the ongoing SMA Awareness Month.

Dr. L Swasticharan announced that MoH&FW is actively considering establishing a specialized Technical Expert Group focusing on Spinal Muscular Atrophy, a rare and genetically inherited neuromuscular disease that robs people of physical strength by affecting motor nerve cells in the spinal cord. “Called Tech SMA, the Group will advise centers of excellence on rare diseases spread across the country on what needs to be done regarding SMA and provide technical inputs. If we can successfully solve the challenge of SMA, the same model can be replicated for other rare diseases in the country,” he added.

SMArtCon2024 was organized by Cure SMA Foundation of India to help build a sustainable ecosystem for SMA and other rare diseases. Participants included over 80 prominent doctors from all over India along with medical students, researchers, therapists, and several individual patients with SMA, along with their families, from locations such as Jammu, Coimbatore, Varanasi, Punjab, Odisha, Jaipur, and Delhi NCR.

Addressing the audiences, Dr. L Swasticharan said: “A rare disease fund has been established by the Government to support treatment of patients. In 2022-23, we supported 203 patients to the tune of Rs 35 crores, a big leap from zero funds three years ago. In 2023-24, this amount rose to Rs 74 crores. In the current fiscal, a budget of Rs 82.4 crore has been assigned for the purpose, out of which Rs 34.2 crore has already been disbursed. However, we realize that even this is not sufficient as we don’t want to leave any patient behind.”

Dr. L Swasticharan added: “Awareness of rare diseases is low even amongst clinicians, and not many of them are working in this area. A synergy is required between the Government and the medical community to address the challenge. We have a national policy for rare diseases and a mechanism to include more ‘orphan’ diseases in the list. The medical community must come forward and help the Government identify priority diseases for attention and treatment as funds are limited. We need to make drugs available and affordable for patients. For this, the Government is focusing on indigenous research and production, supportive therapy, and CSR funding. We are requesting pharma companies to provide funds to set up specialized clinics for rare diseases where patients can go for treatment.”

Said Moumita Ghosh, Co-founder & Director, Family Support & Events, Cure SMA Foundation of India: “Around 4,000 children are born every year with SMA in India. It is the number one genetic cause of death for infants. The US FDA approved the first-ever drug for SMA in 2016. The Cure SMA Foundation of India was established to ensure that all patients of SMA get medicines for treatment. Accessibility, affordability, supportive care and delayed diagnosis remain a huge challenge. The ultimate solution lies in indigenous research but that will take several decades. Meanwhile, we cannot just leave the current patients to deteriorate and die.”

She added: “I urge the Government to further enhance budgetary support for treatment of rare diseases and provide special attention to SMA patients who are currently left to fend for themselves. The treatment is so expensive, it is beyond the reach of almost every patient. We at Cure SMA Foundation firmly believe that successfully meeting the challenge of SMA would provide a model for effectively tackling other rare diseases in the country.”

Said Dr. Rakesh Mishra, Director, Tata Institute for Genetics and Society (TIGS): “We are collaborating with Cure SMA Foundation to find solutions to some of the problems of SMA patients. Delayed diagnosis is a major issue associated with rare diseases, and it can take several years for appropriate diagnosis of a rare disease. We are working towards development of cost-effective diagnostic assays that can accurately diagnose SMA and its type.”

Said an SMA patient Rustam: “We SMA patients are achievers and give our 200% to every endevour, as we have no other option. We are much more focused and determined. We sit in our wheelchair for hours at a stretch and can work single-mindedly. We don’t take breaks or go outside home. We are very good investment for employers. We can deliver many times more value than what an able-bodied person can. SMA patients are successfully running businesses, founding companies, topping CBSE Board exams, and getting admission into IITs. The society should give us a chance to join the mainstream and become productive members. We will not disappoint.”

Also present at the Conference were Dr. DK Sable, Deputy Drugs Controller, CDSCO; Dr Debashish Chowdhury, Director, Professor & Head of Neurology, GB Pant Institute of Post Graduate Medical Education & Research (GIPMER)⁠; Dr. Sheffali Gulati, Head of Pediatric Neurology, AIIMS Delhi; Dr. Ratna Dua Puri, Chairperson, Institute of Genomics, Sir Gangaram Hospital; Ipsita Mitra, Deputy Secretary, Department of Empowerment of Persons with Disabilities, Ministry of Social Justice & Welfare; Swarnendu Singha, Under Secretary, MoH&FW; Dr (Brig) Ranjit Ghuliani, Professor, Dept of Paediatrics, School of Medical Sciences & Research, Sharda University and Sharda Hospital; ⁠and Prof (Dr.) Sanjeev Sharma, Pro Vice chancellor & Registrar, Sushant University, Gurugram.

The Conference hosted two symposiums with 12-15 sessions each for patients and families as well as policy makers, clinicians, researchers, therapists, orthotics, educationists (to cover inclusive education), and firms offering assistive and mobility aids. The participants shared insights about indigenous research in SMA, latest advancements such as new disease-modifying therapies and multidisciplinary supportive care for rare diseases.

SMArtCon2024 was held in collaboration with Academy of Child Neurology, Society for Indian Academy of Medical Genetics, Tata Institute of Genetics and Society, and Artemis Hospital (Gurugram).