Table 1 The challenges and opportunities within the service delivery of gene therapy for paediatric centres

Uncertain potential benefits and risks to implement evidence-based care

Developing real-world evidence to evaluate the long-term efficacy and safety of gene therapy in phenotypically and genetically diverse clinical populations

Few international laboratories established for screening for AAV9 antibodies

Establishing a biobank repository to enable research in parallel with clinical implementation of gene therapy and develop ‘in country’ capacity for AAV9 antibody screening

Obtaining informed consent against a background of uncertainty

Establishing research within clinical care ecosystem so that post approval studies can address data gaps emerging from clinical trials to inform treatment decisions and guide therapeutic expectations

Navigating approvals, processes, and requirements for gene therapy administration

Early involvement and coordination of health system stakeholders with establishment of oversight committees to streamline processes alongside development of national consensus guidelines to mitigate inequities in health implementation and service provision

Developing workforce capacity, education and training for gene therapy administration

Upskilling of the workforce through knowledge exchange activities and establishment of preceptorships to disseminate practical experience of the complexities of gene therapy handling and administration

Surveillance and reporting of adverse events in the short and long term

Establishing coordinated and standardised reporting of safety and efficacy signals and collecting data as part of integrated research in clinical care model to build tools for surveillance and report adverse events to the international SMA community

Establishing infrastructure for real-world data collection and oversight

Creation of a real-world data repository, including the development of clinically meaningful biomarkers to guide therapeutic expectations and inform treatment decisions

Establishing infrastructure for the aseptic preparation of gene- and cell-based therapies

Suitable aseptic facilities for the preparation of biological products for patient administration that require specific environmental containment are not commonly available in healthcare organisations

Education and training of all stakeholders

Development of resources to improve education and provide support in decision-making for stakeholders

Anxiety and misinformation in the public domain around gene and cell therapies and the preservation or development of public trust

The inclusion of patients/families and advocates in the planning and implementation, collection of evidence and as key partners presenting to key stakeholders such as government, media and future patients and families. The opportunity is to build a group of champions from the community sector