The BeWayAPDS project: Designing the best way to optimize management of activated PI3Kδ syndrome (APDS) in Spain from the perspective of key stakeholders

Background

Rare diseases represent a challenge for healthcare systems due to lack of awareness, complexity in management and the limited published evidence available. Activated phosphoinositide 3-kinase delta syndrome (APDS) involves different healthcare specialists from diagnosis to long-term follow-up. Being an ultra-rare chronic complex disorder categorized within inborn errors of immunity (IEI) without clinical guidelines or disease modifying treatments, several challenges arise in patient management. This study aims to elucidate current diagnosis and management processes, identify challenges and opportunities and design a patient pathway directed at improving patient outcomes.

Methods

A literature review was performed to develop a questionnaire to obtain evidence through individual interviews with a multistakeholder panel of experts. A patient pathway was proposed by the experts, including main challenges encountered through management of APDS and proposing potential practical solutions. Challenges were prioritised, identifying those with the highest potential to improve patient management. The proposed patient pathway and the prioritisation of challenges and solutions were then discussed in a reflective group discussion.

Results

A patient pathway was designed and validated including diagnosis, short- and long-term follow-up. Challenges identified impact different steps of the pathway, affecting optimal disease diagnosis, management and outcomes. The solutions proposed included the constitution of IEI multidisciplinary teams, early diagnosis in the symptomatic phase, development of an APDS treatment guideline/algorithm, implementation of artificial intelligence (AI) tools to support diagnosis, training in IEI in Primary Care (PC) centres and reinforcement of patient experience and perspective in decision-making.