The management of rare diseases is rarely addressed among policymakers and public communities. It is hindered by the lack of information on its epidemiology and burden, especially from the perspective of patients and families with rare diseases. This study aims to understand the perceptions of rare disease patients and their families in the management of rare diseases in Malaysia.

A qualitative interview was used to explore the perceptions of patients and families regarding the management of rare diseases in Malaysia. In-depth interviews were conducted with the rare disease patients or their parents/guardians provided by three major rare disease advocacy groups, between 1 July and 15 September 2016. The interviews focused on two key areas: the challenges associated with rare disease and the issues related to accessing medication.

Out of the nineteen recruited participants, seventeen (89.5 percent) completed the interview sessions. The significance of awareness, knowledge, and support from others emerged as crucial for families and patients living with rare diseases. Despite facing delayed diagnosis and treatment, a majority of patients and parents expressed satisfaction with the advancements in rare disease management. Nevertheless, a prominent challenge revolves around access to enzyme replacement therapy for eligible patients.

This study emphasizes the importance of healthcare professionals understanding patient with rare diseases perceptions to tailor communication strategies, provide accurate information, and address concerns effectively. The message underscores the significance of collaboration between healthcare providers and patient support groups to deliver adequate health information, potentially enhancing patients’ understanding and their illness perceptions.

In England, the time gap between marketing authorization (MA) and guidance publication by National Institute for Health and Care Excellence (NICE) can limit patients’ access to new medicines. In this study, our aim was to identify medicine characteristics associated with the long time gap between MA and guidance publication and explore the influencing factors.

We identified 116 single technology appraisals from 2016 to 2020 using publicly available data, and extracted information on the year of appraisal completion, application type, experiences of similar appraisals, orphan medicinal products (OMPs), cancer medicines, and accelerated assessment. Multiple regression analyses were performed to analyze the associations between the medicine characteristics and key time periods related to health technology assessment and MA processes.

OMPs were associated with a long period between MA and guidance publication. Specifically, OMPs and cancer medicines were associated with slow guidance publication after the final scope (FS) development. However, there was no association between OMPs and the period between validation of MA application and FS development. Non-double-blinded randomized clinical trials and the use of comparators not specified in the FS were associated with slow guidance publication after the FS development.

Our results demonstrate that OMPs are associated with a longer period between MA and guidance publication by the NICE than non-OMPs; this may be attributed to the slow guidance publication after the FS development. These findings indicate the necessity to shorten the appraisal process for OMPs.