White PaperHarnessing the Power of Patient Organisations: A Case Study of PO-Driven Drug Development in Ultra-Rare Disease MEIKE MADELUNG, Engagement Manager, EMEA Thought Leadership, IQVIA HELENA BAYLEY, Analyst, EMEA Thought Leadership, IQVIATable of contentsIntroduction: The burden of rare diseases 1Developing a treatment for Alkaptonuria (AKU) 2What is Alkaptonuria? 2Identifying a potential treatment candidate 2Establishing a research consortium 3Trial planning, design, and execution 5Patient identification and recruitment 5Enabling patient retention and providing support 6Lessons learned and future outlook 7Success factors 7Looking ahead: towards a cure for AKU 8Recommendations for creating a successful collaboration between patient organisations and pharma 8References 11About the authors 13 iqvia.com | 1Introduction: The burden of rare diseasesRare and ultra-rare diseases are characterised simultaneously by great unmet need and significant R&D activity. In the EU, a condition is considered rare if it affects fewer than 5 in 10,000 people. Over 6,000 diseases fall under this definition and 1 in 17, or up to 36 million people, are affected. For most of these diseases, no treatment exists.1,2At the same time, there are currently around 900 molecules being investigated for rare diseases, accounting for about 15% of the entire R&D pipeline.The challenges of development in rare disease are reflected in variable developmental success rates — in 2022 the composite success rate across all development phases was 7% against 14% in 2021.3 However, overall orphan drugs have weathered the difficult post-pandemic launch environment comparatively well4 and in recent years have made up 40-50% of approvals in the EU.Figure 1: Rare disease pipeline excluding oncology,Phase I to regulatory submission, by phase, 2022Phase IPhase IIPhase IIIPre/Regis trationAll othersVaccinesGenitourinary/Women's healthPainDermatologicsCardiovascularInfectious diseaseEye/EarImmunology/AllergyHematologicsRespiratoryGastrointestinalNeurologyn=209Phase IPhase IIn=419Phase IIIn=226Pre/Registrationn=51Source: IQVIA Institute, Jan 20232 | Harnessing the Power of Patient Organisations: A Case Study of PO-Driven Drug Development in Ultra-Rare DiseasePatient identification, recruitment, and retention are crucial for successful drug development, but also particularly challenging in rare diseases because of the already low numbers of trial participants and the often widely dispersed patient populations. While AI-powered solutions can help with the technical task of identifying potential candidates by winnowing through vast amounts of patient data,5 patient organisations can play a pivotal role in giving valuable input into trial design from the patient viewpoint and in motivating their patient communities to participate in the trials.In some cases, patient organisations go even further and drive the development of much-needed treatm...
