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H01 The development of a national registry for rare neurological disorders in finland – piloting efforts with huntington’s disease
  1. Jussi O.T. Sipilä1,
  2. Hanna Ansakorpi2,
  3. Mika Grönroos3,
  4. Mika H. Martikainen4,5,
  5. Kari Majamaa2
  1. 1North Karelia Central Hospital, Joensuu and University of Turku, Turku, Finland
  2. 2Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu and Department of Neurology, Oulu University Hospital, Oulu, Finland
  3. 3StellarQ Ltd, Turku, Finland
  4. 4Neurology, Clinical Medicine, University of Turku, Turku and Neurocenter, Turku University Hospital, Turku, Finland
  5. 5Department of Neurology, Satasairaala Hospital, Pori, Finland

Abstract

Background The prevalence of Huntingon’s disease (HD) in Finland is low (2.1/100,000), because high-risk chromosome 4 haplotypes are less common in the general Finnish population (5.6 million) compared to other Caucasian populations. This, combined with a low population density and relatively long distances, has hampered the provision of high-quality care, peer support, and access to clinical trials. Therefore, the planning of a project to establish a national registry for rare neurological diseases, piloted with HD and funded by Neurocenter Finland, commenced in 2018.

Methods A database on Microsoft Excel was designed to rely on clinician co-operation and patient informed consent. Data collection through annually submitted patient charts included demographic characteristics, pre-defined phenotype data, functional capacity, HTT CAG repeat length, and contact information. Serum sample collection was planned.

Results The database was launched in early 2020. The recruitment rate during the first year was low, even though facilitated with the help of the patient association. The project also faced personnel changes and shortages and ultimately resulted only in a data directory executable by clinicians with varying levels of HD expertise. Consequently, the database provider StellarQ was recruited, and the project is being reformulated to technically resemble the Finnish Multiple Sclerosis registry (DOI: 10.1111/ane.13145). Novartis now funds the project.

Conclusions Despite governmental support, a low-tech registry based on limited personnel resources and reliant on co-operation of individual clinicians proved inadequate, especially during the pandemic. An institutional approach with more automated data collection appears necessary. Co-operation with the patient association was helpful.

  • Epidemiology
  • National projects
  • Rare diseases
  • Registry

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