For SLC6A1-related disorders, there is no curative treatment, and patients face unresolved needs including limited efficacy, variable responses and insufficient evidence to guide care.

Small open-label trials frequently lack the rigor to secure access and reimbursement for all patients, underscoring the need to gather real-world data (RWD) to inform reimbursement decisions. Rare disease charities often face challenges in accessing and utilising RWD to effect real change for patients.

To support three rare disease charities progress their objectives around real-world evidence (RWE) generation and use. Here, we will focus on SLC6A1 Connect UK-AQ. Their aim was to understand how to generate publishable RWD to encourage medicine regulators to support off-label use of a repurposed drugfor SLC6A1-related disorders.