A FinnGen pilot clinical recall study for Alzheimer’s disease

Author:

Julkunen Valtteri,Schwarz Claudia,Kalapudas Juho,Hallikainen Merja,Piironen Aino-Kaisa,Mannermaa Arto,Kujala Hanna,Laitinen Timo,Kosma Veli-Matti,Paajanen Teemu I.,Kälviäinen Reetta,Hiltunen Mikko,Herukka Sanna-Kaisa,Kärkkäinen Sari,Kokkola Tarja,Urjansson Mia,Soininen Hilkka,Heikkinen Sami,Mäkelä Tomi P.,Kytölä Anastasia,Ganna Andrea,Jalanko Anu,Liu Aoxing,Lehisto Arto,Ghazal Awaisa,Kilpeläinen Elina,Widen Elisabeth,Saarentaus Elmo,Pitkänen Esa,Ollila Hanna,Laivuori Hannele,Heyne Henrike,Shen Huei-Yi,Rämö Joel,Karjalainen Juha,Mehtonen Juha,Pitkänen Jyrki,Pärn Kalle,Kivinen Katja,Lahtela Elisa L.,Niemi Mari E.,Kaunisto Mari,Kals Mart,Reeve Mary Pat,Aavikko Mervi,Mars Nina,Dada Oluwaseun Alexander,Parolo Pietro Della Briotta,Palta Priit,Weldatsadik Rigbe,Kajanne Risto,Rodosthenous Rodos,Ripatti Samuli,Ruotsalainen Sanni,Strausz Satu,Hassan Shabbeer,Padmanabhuni Shanmukha Sampath,Luo Shuang,Lemmelä Susanna,Tukiainen Taru,Sipilä Timo P.,Kiiskinen Tuomo,Llorens Vincent,Partanen Juulia,Havulinna Aki,Lee Jiwoo,Tsuo Kristin,Kurki Mitja,Vaura Felix,Suvisaari Jaana,Niiranen Teemu,Salomaa Veikko,Chen Chia-Yen,John Sally,Lahdenperä Sanni,Loomis Stephanie,Eaton Susan,Ziemann Adam,Abbasi Ali,Lehtonen Anne,Lertratanakul Apinya,Riley-Gillis Bridget,Rahimov Fedik,Jacob Howard,Waring Jeffrey,Liu Mengzhen,Smaoui Nizar,Popovic Relja,Matakidou Athena,Challis Benjamin,Paul Dirk,Lassi Glenda,Tachmazidou Ioanna,Platt Adam,Okafo George,Salminen-Mankonen Heli,Jung Marc,Lawless Nathan,Ding Zhihao,Maranville Joseph,Hochfeld Marla,Plenge Robert,Biswas Shameek,Choy David,Teng Edmond,Strauss Erich,Chen Hao,Chen Hubert,Schutzman Jennifer,Hunkapiller Julie,McCarthy Mark,Bowers Natalie,Pendergrass Rion,Lu Tim,Kumar Janet,Ehm Margaret G.,Pulford David,Huertas-Vazquez Adriana,Fox Caroline,Sul Jae-Hoon,Raghavan Neha,Longerich Simonne,Mälarstig Anders,Lehtonen Heli,Parkkinen Jaakko,Kalpala Kirsi,Miller Melissa,Bing Nan,McDonough Stefan,Hu Xinli,Wu Ying,Chatelain Clément,Raipal Deepak,Klinger Katherine,Lessard Samuel,Green Eric,Graham Robert,Mozaffari Sahar,Yang Robert,Porello Alessandro,Hart Amy,Waterworth Dawn,Khramtsova Ekaterina,He Karen,Guan Meijian,Li Qingqin S.,O’Donnell Chris,Obeidat Ma’en,Renaud Nicole,Schleutker Johanna,Hakanen Antti,Pitkänen Nina,Terho Perttu,Virolainen Petri,Toivola Auli,Järvensivu Elina,Kaiharju Essi,Mattsson Hannele,Kristiansson Kati,Männikkö Lotta,Laukkanen Markku,Brunfeldt Minna,Laiho Päivi,Wong Regis,Koskelainen Sami,Lähteenmäki Sini,Soini Sirpa,Kilpi Terhi,Hiekkalinna Tero,Sistonen Tuuli,Partanen Jukka,Arvas Mikko,Pitkäranta Anne,Loukola Anu,Punkka Eero,Linna Malla-Maria,Carpén Olli,Raivio Taneli,Kettunen Johannes,Serpi Raisa,Hinttala Reetta,Mantere Tuomo,Kangasniemi Eeva,Palin Henna,Kähönen Mika,Siltanen Sanna,Laitinen Tarja,Laukkanen Jari,Kuopio Teijo,Mäkelä Johanna,Hautalahti Marco,Tuovila Outi,Pakkanen Raimo,Aalto-Setälä Katriina,Daly Mark,Elliott Amanda,Als Thomas Damm,Kanai Masahiro,Maasha Mutaamba,Zhou Wei,Aittomäki Kristiina,Mäkitie Antti,Pujol Natalia,Laisk Triin,Ritari Jarmo,Hyvärinen Kati,Chu Audrey,Kulkarni Diptee,Xu Fanli,Betts Joanna,Eicher John,Gordillo Jorge Esparza,Addis Laura,McCarthy Linda,Mishra Rajashree,Auro Kirsi,Turunen Joni A.,Salminen Aino,Aarnisalo Antti,Gordin Daniel,Rice David,Isometsä Erkki,Salminen Eveliina,Joensuu Heikki,Kalliala Ilkka,Mattson Johanna,Sinisalo Juha,Koskela Jukka,Eklund Kari,Hannula-Jouppi Katariina,Aaltonen Lauri,Taskinen Marja-Riitta,Färkkilä Martti,Raivio Minna,Heikinheimo Oskari,Kauppi Paula,Nieminen Pekka,Tienari Pentti,Pussinen Pirkko,Pikkarainen Sampsa,Ollila Terhi,Tuomi Tiinamaija,Hiltunen Timo,Meretoja Tuomo,Salo Tuula,Palotie Ulla,Palomäki Antti,Aittokallio Jenni,Rinne Juha,Metsärinne Kaj,Elenius Klaus,Pirilä Laura,Koulu Leena,Voutilainen Markku,Lahesmaa Riitta,Kallionpää Roosa,Peltonen Sirkku,Willberg Tytti,Gursoy Ulvi,Jokimaa Varpu,Donner Kati,Reilly Dermot,Vuoti Sauli,Loboda Andrey,Farias Fabiana,Miller Jason,Remes Anne,Rahikkala Elisa,Huhtakangas Johanna,Tasanen Kaisa,Huilaja Laura,Morin-Papunen Laure,Niinimäki Maarit,Vääräsmäki Marja,Uimari Outi,Karihtala Peeter,Piltonen Terhi,Harju Terttu,Blomster Timo,Anttonen Vuokko,Kaarniranta Kai,Suominen Liisa,Pelkonen Margit,Siponen Maria,Kiviniemi Mikko,Kaipiainen-Seppänen Oili,Auvinen Päivi,Mäntylä Päivi,Ngo Debby,Mouded Majd,Mendelson Mike,Auranen Annika,Jussila Airi,Bizaki-Vallaskangas Argyro,Uusitalo Hannu,Peltola Jukka,Hernesniemi Jussi,Kaukinen Katri,Kotaniemi-Talonen Laura,Isomäki Pia,Salmi Teea,Kurra Venla,Sipilä Kirsi,Åberg Fredrik,Kankaanranta Hannu,Palotie Tuula,Hovatta Iiris,Toppila-Salmi Sanna,Palin Kimmo,Välimäki Niko,Laakkonen Eija,Laakkonen Eija,Sliz Eeva,Silven Heidi,Pylkäs Katri,Karjalainen Minna,Arffman Riikka,Savukoski Susanna,Tyrmi Jaakko,Rivas Manuel,Siirtola Harri,Vähätalo Iida,Garcia-Tabuenca Javier,Niemi Marianna,Helminen Mika,Luukkaala Tiina,Perola Markus,Palotie Aarno,Vuoksimaa Eero,Runz Heiko,

Abstract

AbstractSuccessful 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 < 0.002) and phosphorylated-tau 181 (pTau-181) (p < 0.020) most reliably differentiated AD from MCD participants. We conclude that informative, customized clinical recall studies from FinnGen are feasible.

Funder

Academy of Finland

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

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