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@ARTICLE{Cash:279454,
author = {Cash, David M and Morgan, Katy E and O'Connor, Antoinette
and Veale, Thomas D and Malone, Ian B and Poole, Teresa and
Benzinger, Tammie Ls and Gordon, Brian A and Ibanez, Laura
and Li, Yan and Llibre-Guerra, Jorge J and McDade, Eric and
Wang, Guoqiao and Chhatwal, Jasmeer P and Day, Gregory S and
Huey, Edward and Jucker, Mathias and Levin, Johannes and
Niimi, Yoshiki and Noble, James M and Roh, Jee Hoon and
Sánchez-Valle, Racquel and Schofield, Peter R and Bateman,
Randall J and Frost, Chris and Fox, Nick C},
collaboration = {Network, Dominantly Inherited Alzheimer},
title = {{S}ample size estimates for biomarker-based outcome
measures in clinical trials in autosomal dominant
{A}lzheimer's disease.},
journal = {The journal of prevention of Alzheimer's disease},
volume = {12},
number = {6},
issn = {2274-5807},
address = {Cham},
publisher = {Springer International Publishing},
reportid = {DZNE-2025-00781},
pages = {100133},
year = {2025},
abstract = {Alzheimer disease (AD)-modifying therapies are approved for
treatment of early-symptomatic AD. Autosomal dominant AD
(ADAD) provides a unique opportunity to test therapies in
presymptomatic individuals.Using data from the Dominantly
Inherited Alzheimer Network (DIAN), sample sizes for
clinical trials were estimated for various cognitive,
imaging, and CSF outcomes. Sample sizes were computed for
detecting a reduction of either absolute levels of
AD-related pathology (amyloid, tau) or change over time in
neurodegeneration (atrophy, hypometabolism, cognitive
change).Biomarkers measuring amyloid and tau pathology had
required sample sizes below 200 participants per arm
(examples CSF Aβ42/40: 47[95 $\%CI$ 25,104], cortical PIB
49[28,99], CSF p-tau181 74[48,125]) for a four-year trial in
presymptomatic individuals (CDR=0) to have 80 $\%$ power (5
$\%$ statistical significance) to detect a 25 $\%$ reduction
in absolute levels of pathology, allowing 40 $\%$ dropout.
For cognitive, MRI, and FDG, it was more appropriate to
detect a 50 $\%$ reduction in rate of change. Sample sizes
ranged from 250 to 900 (examples hippocampal volume:
338[131,2096], cognitive composite: 326[157,1074]). MRI, FDG
and cognitive outcomes had lower sample sizes when including
indivduals with mild impairment (CDR=0.5 and 1) as well as
presymptomatic individuals (CDR=0).Despite the rarity of
ADAD, presymptomatic clinical trials with feasible sample
sizes given the number of cases appear possible.},
keywords = {Humans / Alzheimer Disease: genetics / Alzheimer Disease:
cerebrospinal fluid / Alzheimer Disease: diagnosis /
Alzheimer Disease: diagnostic imaging / Alzheimer Disease:
pathology / Biomarkers: cerebrospinal fluid / Amyloid
beta-Peptides: cerebrospinal fluid / Sample Size / tau
Proteins: cerebrospinal fluid / Male / Female / Clinical
Trials as Topic / Outcome Assessment, Health Care / Magnetic
Resonance Imaging / Positron-Emission Tomography / Brain:
pathology / Brain: diagnostic imaging / Middle Aged /
Alzheimer's disease (Other) / Autosomal dominant (Other) /
CSF (Other) / Clinical trials (Other) / Linear mixed effects
models (Other) / Longitudinal (Other) / MRI (Other) / PET
(Other) / Sample size (Other) / ß-amyloid (Other) /
Biomarkers (NLM Chemicals) / Amyloid beta-Peptides (NLM
Chemicals) / tau Proteins (NLM Chemicals)},
cin = {AG Jucker / Clinical Research (Munich) / AG Levin},
ddc = {610},
cid = {I:(DE-2719)1210001 / I:(DE-2719)1111015 /
I:(DE-2719)1111016},
pnm = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40118731},
doi = {10.1016/j.tjpad.2025.100133},
url = {https://pub.dzne.de/record/279454},
}