Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Daphne H SchoenmakersSibren van den BergLonneke TimmersLaura A AdangTobias BäumerAnnet M BoschMarc van de CasteeleMareen R DatemaHanka DekkerConan DonnellyMariëtte H E DriessensHolm GraessnerValerie GregerTala HaddadGünter U HöglingerJohanna M P van den HoutCarla JonkerMirjam LangeveldLaurie J LambertEileen NeacyMarc NieuwlandThomas KlockgetherMarjo S van der KnaapAndri PapadopoulouKelly PlueschkeSanne van RijnNoa RosenbergElise F Saunier-VivarBruna Dos Santos VieiraCarla E M HollakWim G GoettschNicole I WolfPublished in: Neurology (2024)
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent financing of registries is deemed important but remains challenging because of a lack of widely supported funding models. The proposed framework will guide stakeholders in establishing or improving rare disease registries that fulfill requirements of academics and patients as well as regulators, HTA bodies, and commercial parties. There is a need for more clarity regarding quality requirements for registries in regulatory and HTA context. In addition, independent financing models for registries should be developed, as well as well-defined policies on technical uniformity in health data.
Keyphrases
- electronic health record
- healthcare
- big data
- transcription factor
- case report
- public health
- systematic review
- end stage renal disease
- mental health
- ejection fraction
- newly diagnosed
- decision making
- primary care
- risk assessment
- palliative care
- emergency department
- machine learning
- human health
- peritoneal dialysis
- climate change
- genome wide
- pain management
- adverse drug
- health insurance
- medical students