Focus on Neurogenetic Diseases
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases. 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 multifaceted knowhow. This study aims to develop a practical framework for creating and implementing patient registries, focusing on rare neurogenetic diseases, addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision-making.
A comprehensive three-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 five established international rare neurogenetic disease registries to add hands-on experiences to the framework. Expert input on the draft framework was sought in digital multi-stakeholder 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 and payers (n=7), industry representatives (n=7), and data/IT specialists (n=5) led to 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. The governance should involve multiple stakeholders. Additionally, data should be highly descriptive, machine-readable, accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent financing of registries is deemed important but remains challenging due to a lack of widely supported models on funding sources.
The proposed framework should guide stakeholders in establishing or improving rare disease registries that fulfill requirements of academics and patients as well as regulators and commercial parties. There is a need for more clarity regarding quality requirements for registries in regulatory and health technology assessment context. In addition, independent financing models for registries should be developed, as well as clear policies on technical uniformity in health data.
SCHOENMAKERS Daphne H.;
VAN DEN BERG Sibren;
TIMMERS Lonneke;
ADANG Laura;
BÄUMER Tobias;
BOSCH Annet M.;
VAN DE CASTEELE Marc;
DATEMA Mareen;
DEKKER Hanka;
DONNELLY Conan;
DRIESSENS Mariëtte;
GRAESSNER Holm;
GREGER Valerie;
HADDAD Tala;
HÖGLINGER Günter;
VAN DEN HOUT Johanna M.P.;
JONKER Carla;
LANGEVELD Mirjam;
LAMBERT Laurie;
NEACY Eileen;
NIEUWLAND Marc;
KLOCKGETHER Thomas;
VAN DER KNAAP Marjo S.;
PAPADOPOULOU Andri;
PLUESCHKE Kelly;
VAN RIJN Sanne;
ROSENBERG Noa;
SAUNIER-VIVAR Elise;
DOS SANTOS VIEIRA Bruna;
HOLLAK Carla E.M.;
GOETTSCH Wim G.;
WOLF Nicole I.;
2024-08-26
LIPPINCOTT WILLIAMS & WILKINS
JRC136748
0028-3878 (online),
https://www.neurology.org/doi/abs/10.1212/WNL.0000000000209743,
https://www.neurology.org/doi/pdf/10.1212/WNL.0000000000209743,
https://publications.jrc.ec.europa.eu/repository/handle/JRC136748,
10.1212/WNL.0000000000209743 (online),
