(C04) European Rare Disease Registries: A Collaborative Effort to Assess the Quality and Suitability of Registries to Describe the Natural History of Disease and Treatment Landscape of Spinal Muscular Atrophy
Background: Spinal muscular atrophy (SMA) is a rare recessive progressive neurodegenerative disorder that affects less than 1/6.000 patients. In view of the approval of new treatments, there is a need to study the potential changes of the natural disease progression. European Medicines Agency (EMA), Aetion and TREAT-NMD are collaborating on a registry-based study to learn about SMA patients’ course of disease, SMA standards of care delivery, and use of disease-modifying therapies (DMTs) in real-world settings.
Objectives: To conduct a fit-for-purpose (FFP) assessment of European SMA registries from the TREAT-NMD network and assess their suitability to participate in the first ever EMA-funded registry study in collaboration with the Committee for Advanced Therapies.
Methods: SMA European registries were pre-identified. A two-stage approach was applied for selection: 1/ initial contact to assess willingness to participate and ability to provide results in due time; 2/ feasibility assessment considering the EMA Guideline on registry-based studies as well as the structured process to identify fit-for-purpose data (SPIFD). Considering the descriptive nature of the study and the heterogeneity of the disease, minimum data needs included demographics, genetic diagnosis, clinical characteristics, treatments, disease outcomes and patient-reported outcomes. Ranking of registries was based on quantitative data completeness and qualitative assessment.
Results: Sixteen European registries from 18 countries within the TREAT-NMD network were initially contacted for assessment. Among those, 10 were selected for feasibility assessment. Based on SPIFD registry ranking, European regional coverage and registry type, 7 registries (4 clinician-based and 3 patient-based) were recommended for the study. Variability in data availability was observed across registries. Almost all patients had SMA diagnosis genetically confirmed (except for some patient-based registries); genetic testing methods were available in a few registries. Treatments and disease outcomes were recorded with more details in clinician-based registries. Dosage of DMTs was not available across patient-based registries. Motor function test results were not collected in patient-based registries. Patient-reported outcomes data were generally limited.
Conclusions: The EMA Guideline on registry-based studies and the SPIFD approach should be considered to assess registries’ suitability for use in regulatory contexts. Main limitations for collaboration with registries were tight study timelines, data quality and availability. The use of multiple registries in rare disease provides complementary information and bolsters sample size to answer regulatory research questions.
