Building sustainable rare-disease ecosystem stressed

SMArtCon2024, a two-day national conference on spinal muscular atrophy (SMA), was held in India recently. 

This conference was designed to enhance knowledge on SMA care, management and available treatment and brainstorming innovative solutions and chart the way forward to build a sustainable healthcare ecosystem for SMA and other rare diseases in India.

Cure SMA Foundation of India has been continuously working for the last 10 years to ensure the treatment of the patients with this disease. 

SMArtCon2024 was held at Lemon Tree Hotel, Sector 60, Gurugram (Delhi-NCR), on August 24-25. 

It is the Second National Conference on SMA organized by this parent-led non-profit organization. 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). 

The theme of the event was “Building a sustainable ecosystem for spinal muscular atrophy and other rare diseases.”

SMArtCon2024 was far more than just a gathering—it was a dynamic convergence of knowledge, experience, and hope for the entire SMA community. 

The conference hosted two symposiums with 12-15 sessions each for patients and families as well as clinicians, researchers and therapists. 

The participants shared insights about indigenous research in SMA, latest advancements such as new disease-modifying therapies and multidisciplinary supportive care for SMA and other rare diseases.

The event brought together patients, caregivers, clinicians, researchers, and therapists to shared insights about building a sustainable rare-disease ecosystem, indigenous research in India, latest advancements such as new disease-modifying therapies, and multidisciplinary supportive care for SMA and other rare diseases.

Moumita Ghosh, co-founder & director, Family Support & Events, Cure SMA Foundation of India, said, the sessions were incredibly valuable and insightful. From cutting-edge research updates to practical care strategies, every discussion was tailored to empower the SMA community with the knowledge and tools needed to enhance their lives. 

She said, beyond the sessions, SMArtCon2024 was a true celebration of our collective strength and unity. We shared stories, built new connections, and fortified the bonds that make our community so resilient.

Dr. Sheffali Gulati, head of pediatric neurology, AIIMS Delhi, was the Chairperson of the advisory board for SMArtCon 2024. 

Dr. Ratna Dua Puri, chairperson of the Institute of Genomics at Sir Gangaram Hospital, was the Chairperson of SMArtCon 2024 Scientific Committee.

The focus areas of Symposium for SMA Patients and Caregivers included themes like managing daily care and challenges, navigating treatment options, building support networks and patient and caregiver experiences and stories. The symposium for clinicians and therapists focused on genetic and neurological basis of SMA, multidisciplinary care approaches, advances in disease-modifying therapies, latest research in India, clinical trials and medical & research ethics. 

Lots of participants attended the conference including parents of patients, government delegates, clinicians, researchers, renowned doctors, physiotherapists, orthotics experts, medical college students and patient advocates from the US and Europe. 

       Hasan Mahmud attends SMArtCon2024 from Bangladesh as patient advocate

From Bangladesh journalist Hasan Mahmud and Omar Faruq attended at the event as the patient advocates of Cure SMA Bangladesh. 

Hasan Mahmud is the vice president and Omar Faruq is the treasurer of the parent-led non-profit organization. 

SMA is a rare and genetically inherited neuromuscular disease. It is a rare and genetically inherited neuromuscular disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants. Around 4,000 children are born every year in India with SMA. In Bangladesh, Cure SMA Bangladesh registered 190 patients so far till date. 

It is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The muscle weakness worsens with age.

There are 4 types of spinal muscular atrophy. The types differ in age of onset and severity of muscle weakness. SMA mostly affects infants and young children. Babies with severe type of SMA type 1 do not even live up to see their 1st or 2nd birthday. Though children with type 2 and 3 live up to teenage and adulthood, they are confined to wheelchair and go through scoliosis of spine and poor lung function. These children are intellectually quite sharp and perform brilliantly despite all odds. The Cure SMA Foundation has as members three SMA type 2 patients who are national toppers of CBSE in class X & XII. Some have even got admission in IITs and MBBS purely on merit, while others have carved out successful careers in law, banking, etc.