The SMA project, with a budget exceeding VND8.1 billion , spans three years (2022-2025) and focuses on four key objectives: raising community awareness about SMA, enhancing the diagnostic and treatment skills of medical staff, supporting genetic testing for high-risk children and conducting research on the disease in Vietnam, and advocating for long-term, sustainable support policies for children with SMA.

In its inaugural year, the project has already marked significant progress. This includes collaboration with the Vietnam Pediatric Association to develop materials aimed at increasing awareness of spinal muscular atrophy symptoms among the community and healthcare professionals. A media campaign was launched on International Rare Disease Day at the National Children’s Hospital and Children’s Hospital 1 to further educate about spinal muscular atrophy. Specialized workshops were conducted for the national network of healthcare professionals, focusing on spinal muscular atrophy. A community education program was initiated, emphasizing physiotherapy and nutrition for children affected by spinal muscular atrophy, to enhance disease awareness and guide home-based pediatric patient care. An advisory board meeting was held with top pediatric experts to discuss comprehensive management of spinal muscular atrophy and agree on future actions, ranging from the introduction of the national treatment guidelines for spinal muscular atrophy to the execution of a screening program in 2024.

During the “Spring for Children” program, an annual event organized by the NFVC, MOLISA acknowledged and appreciated Novartis Vietnam’s commitment to partnering with the Government of Vietnam to achieve the goals of childcare, protection, and education.

Mr. Dinh Tien Hai, Director of the National Fund for Vietnamese Children stated, “Our collaboration with Novartis Vietnam aims to alleviate the burden of SMA on patients, their families, and society at large. The program will enhance everyone’s understanding of the disease, especially those of childbearing age, enabling timely diagnosis and treatment to mitigate the severe consequences of SMA.”

Karina Ng, Country President of Novartis Vietnam, reaffirmed, “Novartis is steadfast in its commitment to the medical industry and the SMA patient community. Our efforts have been recognized by the NFVC and MOLISA, marking the beginning of a meaningful project. We look forward to future collaborations where we can support children with rare diseases.”

In the remaining two years of the project, Novartis Vietnam will continue its educational activities and knowledge enhancement initiatives for effective disease management. The company will also work with the Vietnamese health sector to establish standards of care for SMA patients, support patients in accessing specific treatments quickly and sustainably, and strive to minimize the severe consequences of the disease and improve the quality of life for patients and the community.

Spinal muscular atrophy: A rare disease, yet not uncommon

Global statistics indicate that over 300 million individuals are currently living with approximately 6,000 rare diseases, accounting for about 3.5 - 5.9% of the world’s population. A significant 72% of these diseases are related to genetic transmission, and more than 70% of rare diseases manifest symptoms in childhood.

As per the World Health Organization, in Vietnam, one in every 15 individuals suffers from a rare disease, equating to around 6 million people. Alarmingly, 58% of these cases are children, and tragically, up to 30% of children with rare diseases do not survive past the age of 5.

Among the thousands of rare diseases, Spinal Muscular Atrophy (SMA) stands out. This rare disease, caused by a lack of functional SMN1 gene, occurs at a frequency of about 1:11,000 births , and the rate of individuals carrying the disease gene is 1/50 . The disease manifests in various forms, with types 1 and 2 being the most severe. Infants diagnosed with type 1 SMA are unlikely to survive beyond 2 years of age, while children with type 2 SMA will never be able to stand or walk. In addition to motor impairment, SMA also causes severe complications related to breathing and nutrition, imposing a significant burden on the patients themselves, their families, and society as a whole.

Due to its rarity, many clinicians may not initially recognize the early signs of SMA, which leads to delays in diagnosis and treatment. Timely access to treatment and effective care is essential to reduce the immense medical and economic burden of the disease and improve clinical outcomes.

In Vietnam, the National Children’s Hospital, Children’s Hospital 1 and Children’s Hospital 2 are the primary healthcare facilities providing treatment for pediatric SMA patients. Notably, between 2016 and 2021, the National Children’s Hospital alone diagnosed 301 children with SMA. This means that the hospital receives about 50 new SMA diagnoses each year, a significant increase from the first three years of 2002 - 2004 when the hospital began diagnosing the disease using genetic analysis.