Individuals impacted by rare diseases face systemic barriers to accessing emerging treatments, despite their growing prevalence. As Malaysia moves towards adapting a framework that aims to improve care for rare diseases in the country, this paper builds on previous IDEAS’ publications on rare diseases. The paper identifies the inaccessibility of new treatments and explores policies to address clinical, financial and systemic barriers to providing sustainable, equitable access to high-cost SMA treatments in Malaysia. It explores the feasibility of an outcomes-based payment model (OBPM) within existing financing models; the analysis highlights a three-pronged core findings strategy, which focuses on:

• Clinical readiness, wherein clear, localised eligibility criteria based on clinical consensus must be established in order to ensure fairness and accountability in determining patient access to SMA gene therapy, strengthened further with the implementation of Newborn Screening (NBS) and a National Rare Disease Registry.
• Financing innovation through the development of a pure financial payment stream, where the therapy’s high upfront cost is spread over 15–20 years to reduce annual fiscal pressure and enable procurement within existing budgets. Simultaneously, Malaysia’s rare disease budget should be expanded annually, centralised funding mechanisms explored, and economies of scale leveraged via values-based approaches and regional collaboration.
• Systemic governance through a legislated, MOH-led, cost-recovery process publicly reporting new therapies’ full financials; ensuring long-term sustainability via a robust risk-pooling ecosystem; embedding ethical governance for transparent, secure patient data, considering patient/caregiver burdens; and coordinated national support with clearer funding, reduced fragmentation, and better clinical training.

Meaningful and lasting reform is required across the health, financial, and ethical ecosystem to ensure transparency and address the profound financial and emotional toll experienced by patients and caregivers, adjacent to ensuring equitable access for all citizens affected by rare diseases.