A FinnGen pilot clinical recall study for Alzheimer’s disease

Autor: Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen, Aino-Kaisa Piironen, Arto Mannermaa, Hanna Kujala, Timo Laitinen, Veli-Matti Kosma, Teemu I. Paajanen, Reetta Kälviäinen, Mikko Hiltunen, Sanna-Kaisa Herukka, Sari Kärkkäinen, Tarja Kokkola, Mia Urjansson, FinnGen, Markus Perola, Aarno Palotie, Eero Vuoksimaa, Heiko Runz
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Druh dokumentu: article
ISSN: 2045-2322
DOI: 10.1038/s41598-023-39835-7
Popis: Abstract Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks with comprehensive health and genetic data from large numbers of individuals hold promise to facilitate identification of trial participants, particularly when interventions need to start while symptoms are still mild, such as for Alzheimer’s disease (AD). This study describes a process for clinical recall studies from FinnGen. We demonstrate the feasibility to systematically ascertain customized clinical data from FinnGen participants with ICD10 diagnosis of AD or mild cognitive disorder (MCD) in a single-center cross-sectional study testing blood-based biomarkers and cognitive functioning in-person, computer-based and remote. As a result, 19% (27/140) of a pre-specified FinnGen subcohort were successfully recalled and completed the study. Hospital records largely validated registry entries. For 8/12 MCD patients, other reasons than AD were identified as underlying diagnosis. Cognitive measures correlated across platforms, with highest consistencies for dementia screening (r = 0.818) and semantic fluency (r = 0.764), respectively, for in-person versus telephone-administered tests. Glial fibrillary acidic protein (GFAP) (p
Databáze: Directory of Open Access Journals
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje