Rare Diseases – A Silent Challenge in Healthcare

Rare diseases are conditions with very low prevalence, yet their diagnostic and treatment journeys are often prolonged and complex. According to the World Health Organization (WHO), a rare disease is defined as a condition affecting no more than 1 in 2,000 people (1). In the United States, the Orphan Drug Act (1983) defines rare diseases as those affecting fewer than 200,000 individuals (2).

Although each rare disease is uncommon, collectively they are far from rare. The Orphanet database has identified more than 6,000 rare diseases, of which approximately 71.9% have a genetic origin and 69.9% present in childhood (2). Epidemiological analyses estimate that 3.5–5.9% of the global population – equivalent to 263-446 million people – are living with a rare disease at any given time (2).

The Situation in Vietnam 

In Vietnam, it is estimated that around 6 million people (approximately 1 in 15 individuals) are living with a rare disease (3). To date, about 100 rare diseases have been identified in the country (3). Notably, 58% of patients are children, and 30% of children with rare diseases do not survive beyond the age of five without timely treatment (3). These figures highlight that while individual rare diseases are uncommon, their cumulative burden on public health is substantial.

Key Challenges Faced by Patients with Rare Diseases 

1. Diagnostic Challenges

Diagnosing rare diseases remains a major challenge. On average, patients wait approximately 4.8 years to receive an accurate diagnosis (1,3). During this time, they often undergo multiple consultations across specialties, numerous tests, and someties inappropriate treatments before the correct diagnosis is established. Due to complex clinical presentations, up to 40% of rare diseases are initially misdiagnosed, leading to suboptimal treatment and missed opportunities for early intervention (1,3).

2. Lack of Disease-Specific Treatments

Even after diagnosis, more than 95% of rare diseases still lack diseasespecific therapies (1,3). Most patients receive only symptomatic treatment and supportive care, which can significantly impair quality of life (3).

Immunosuppressants and corticosteroids are commonly used to control inflammation in rare autoimmune diseases; however, they are associated with significant adverse effects – such as metabolic disorders, osteoporosis, and renal impairment – and often provide only temporary benefit (4).

3. Financial and Psychological Burden

Rare diseases affect not only physical health but also mental well-being and overall quality of life. Treatment is often long-term and costly, while many orphan drugs are not covered by health insurance, placing a heavy financial burden on patients and their families (5). In addition, patients frequently experience isolation due to limited awareness of their conditions, resulting in fewer support networks and lower prioritization in healthcare policies.

Emerging Trends in Rare Disease Research and Treatment 

Given the limitations of current therapies, research is increasingly focused on breakthrough approaches, particularly targeted and immune-modulating treatments:

• CAR-T cell therapy: Already successful in hematologic cancers, CAR-T is now being explored for autoimmune diseases. Phase I trials of CD19-targeted CAR-T therapy (developed by BMS) in patients with systemic sclerosis, lupus, and immune-mediated myositis have shown promising results. Approximately 94% of patients were able to discontinue long-term immunosuppressive therapy, with significant improvements in lung function and skin thickness (6).

• Targeted biologics: Monoclonal antibodies and next-generation immune pathway inhibitors (e.g., anti-TNF, anti-IL-6, anti-CD20) are increasingly used to replace or reduce corticosteroid use. These therapies can effectively control inflammation and symptoms, improving quality of life, although their high cost limits accessibility, particularly in Vietnam.

• Growth in clinical trials: Globally, the number of clinical trials for rare autoimmune diseases is increasing, accelerating the discovery of new treatments (7). Advanced technologies such as gene therapy and stem cell therapy are also being actively researched and applied. While whole genome sequencing (WGS) enables earlier diagnosis and more personalized treatment, its high cost remains a major barrier to widespread clinical implementation (8).

Vinmec – VinUni: Pioneering a Rare Disease Support Ecosystem 

Amid ongoing challenges in the diagnosis and treatment of rare diseases, specialized research centers are playing an increasingly vital role in improving patients’ quality of life. Through scientific research, professional training, and the development of comprehensive care models, these institutions help shorten diagnostic timelines, expand access to appropriate treatments, raise public awareness, and contribute to the advancement of healthcare policies.

In Vietnam, Vinmec – VinUni is steadily establishing itself as a pioneer in the field of rare diseases. With an integrated healthcare ecosystem, Vinmec – VinUni has implemented a wide range of applied research initiatives, international collaborations, and technology transfer programs to bring advanced medical innovations into clinical practice. Two affiliated research institutes – the Vinmec Research Institute of Stem Cell and Gene Technology (VRISG) and the Vinmec – VinUni Institute of Immunology (VIVI) – serve as key pillars in advancing precision medicine and rare disease treatment in Vietnam.

In particular, VIVI stands out as one of the leading institutions in rare disease research and treatment, with a strategic focus on strengthening diagnostic capabilities and developing novel therapies tailored to the Vietnamese population. At the same time, Vinmec – VinUni places strong emphasis on training highly specialized healthcare professionals, aiming to build a sustainable rare disease support system.

Each research effort and every patient case represents not only scientific progress but also a testament to the humanistic values of medicine. Rare diseases are not solely a medical challenge -they are stories that call for empathy and compassion, where patients deserve to be heard, cared for, and empowered to live meaningful lives.

Vinmec – VinUni is committed to standing alongside the rare disease community, working toward a future where everyone has access to accurate diagnosis, timely treatment, and better health outcomes.

For more information about research programs and collaborations in rare diseases at Vinmec – VinUni, please contact: [email protected]

REFERENCES 

1. Lancet Global Health (2024) ‘The landscape for rare diseases in 2024’, The Lancet Global Health, 12(3), e341. Available at: https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00056-1/fulltext.
2. Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. (2020) ‘Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database’, European Journal of Human Genetics, 28(2), pp. 165–173. Available at: https://www.nature.com/articles/s41431-019-0508-0 . doi: 10.1038/s41431-019-0508-0.
3. Báo Điện tử Chính phủ (2025) ‘6 triệu người Việt Nam chịu ảnh hưởng bệnh hiếm: Cần giải pháp quản lý toàn diện’, Báo Điện tử Chính phủ, 16 September. Available at: https://baochinhphu.vn/6-trieu-nguoi-viet-nam-chiu-anh-huong-benh-hiem-can-giai-phap-quan-ly-toan-dien-102250916172511795.htm.
4. Trần, L. (2025) ‘Lupus ban đỏ diễn biến âm thầm, làm sao để phát hiện mình mắc bệnh tự miễn này?’, Báo Nhân Dân điện tử, 30 October. Available at: https://nhandan.vn/lupus-ban-do-dien-bien-am-tham-lam-sao-de-phat-hien-minh-mac-benh-tu-mien-nay-post919142.html.
5. Bộ Y tế (2025) ‘Tăng cường tiếp cận thuốc hiếm cho người mắc bệnh hiếm tại Việt Nam’, Cổng thông tin điện tử Bộ Y tế, 18 August. Available at: https://moh.gov.vn/tin-lien-quan/-/asset_publisher/vjYyM7O9aWnX/content/tang-cuong-tiep-can-thuoc-hiem-cho-nguoi-mac-benh-hiem-tai-viet-nam .
6. Bristol Myers Squibb (2025) ‘Bristol Myers Squibb presents encouraging data from Phase 1 Breakfree-1 study of CD19 NEX-T™ CAR T cell therapy in three chronic autoimmune diseases at ACR Convergence 2025’, Bristol Myers Squibb Newsroom, 25 October. Available at: https://news.bms.com/news/corporate-financial/2025/Bristol-Myers-Squibb-Presents-Encouraging-Data-from-Phase-1-Breakfree-1-Study-of-CD19-NEX-T-CAR-T-Cell-Therapy-in-Three-Chronic-Autoimmune-Diseases-at-ACR-Convergence-2025/default.aspx.
7. Bauer, R. (2024) ‘Clinical trial trends: rare autoimmune’, Precision for Medicine – The Precision Blog, 16 July. Available at: https://www.precisionformedicine.com/blog/clinical-trial-landscape-rare-autoimmune.
8. Choon, Y.W., Choon, Y.F., Nasarudin, N.A., Al Jasmi, F., Remli, M.A., Alkayali, M.H. and Mohamad, M.S. (2023) ‘Artificial intelligence and database for NGS-based diagnosis in rare disease’, Frontiers in Genetics, 14, 1258083. Available at: https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1258083/full.