DIAN-TU Biospecimen Resource Request Page

In order to avoid the situation where two investigators study the same research question, please search our database to determine if your topic has already been studied. If you find that your topic or a related topic has already been submitted, you may wish to contact the investigator to inquire about his/her findings to determine how you might proceed. You may wish to collaborate or modify your request to avoid overlap. The results below reflect requests made since online requests have been accepted. As such, not all fields will have data as certain information, such as aims, were not collected until recently. If an entry has been assigned an ID # (e.g. TU1004), the full request has been submitted and is either approved, disapproved or in process.

Displaying 1 - 22 of 22

Investigator:

Laurent Roybon

Title:

Models and therapies for Dominantly Inherited Alzheimer disease

Date of Request:

08/16/2023

Aim 1:

Generate humanized models of early and advanced AD cellular pathogenesis

Aim 2:

Use humanized models to explore a gene therapy for disease progression in AD

Investigator:

Randall Bateman

Title:

Proteomic Biomarkers in Autosomal Dominant Alzheimer’s Disease

Date of Request:

08/07/2023

Aim 1:

Define the landscape and temporal sequence of CSF and plasma proteomic changes in ADAD

Aim 2:

Determine how treatment with anti-amyloid immunotherapies affects levels of brain-based biomarkers in ADAD CSF and plasma

Aim 3:

Leverage proteomics data to provide biological pathway and systems context to experimental results generated in other DIAN projects

Investigator:

Junie Saint Clair

Title:

Examining the Predictive Value of Synaptic Dysfunction and Neuronal Injury Measures on Imaging Markers of Disease Presentation and Progression in Alzheimer's Disease

Date of Request:

08/01/2023

Aim 1:

Evaluate association between rates of longitudinal change in CSF levels of Ng, SNAP-25, VILIP-1 and imaging brain changes and cognition in a DIAD cohort.

Aim 2:

Evaluate association between rates of longitudinal change in CSF levels of Ng, SNAP-25, VILIP-1 and imaging brain changes and cognition in aged adults LOAD cohort.

Investigator:

Bart De Strooper

Title:

Testing the role of presenilins in cell states

Date of Request:

04/14/2023

Aim 1:

Profiling the gamma-secretase substrate proteome in PSEN1 H163R iPSC-derived microglia

Aim 2:

Characterizing the transcriptional and functional phenotype of human PSEN1 H163R microglia in a humanized chimeric AD mouse model.

Investigator:

Carlos Cruchaga

Title:

Functional characterization of brain circular RNAs in Alzheimer disease using induced pluripotent stem cell models

Date of Request:

04/04/2023

Aim 1:

To analyze the role of circHOMER1 in AD-related molecular phenotypes using cellular models

Investigator:

RANDALL J BATEMAN

Title:

DIAN-TU-001 Clinical Core Statistical Analysis Plan (SAP) for biochemical measures of amyloid and tau phosphorylation in the brain, and their correlation with clinical, cognitive, and other imaging/CSF outcomes

Date of Request:

01/17/2023

Aim 1:

Specific Aim 1: To biochemically quantify the amount of soluble and insoluble amyloid-beta and tau species in specific regions of the frozen brain regions by mass spectrometry in DIAN-TU, DIAN-Obs and non-AD age-matched controls. Additional biochemical measures of other biomolecules, for example, alpha synuclein, APP, ApoE, inflammatory markers, synaptic & neuronal markers will also be explored.

Aim 2:

Specific Aim 2: Compare the amounts of soluble and insoluble amyloid-beta and tau species between active gantenerumab, active solanezumab, placebo (those from the DIAN-TU placebo arm who did not continue in the gantenerumab Open Label Extension, when available), and control cases (including DIAN-Obs and non-AD controls) to determine effects of drug treatment on amyloid-beta and tau species. Active drug data will be compared with placebo and controls, not with other drug data.

Aim 3:

Specific Aim 3: To quantify by immunohistochemistry the amount of amyloid-beta deposition, tau pathology, astrocytosis, microgliosis, alpha-synucleinopathy, and TDP-43 proteinopathy in multiple neuroanatomic regions of the formalin-fixed brain tissue samples from DIAN-TU and DIAN-Obs participants and their family members, and non-AD age-matched controls. Additional immunohistochemistry measures of other biomolecules, for example, APP, ApoE, inflammatory markers, synaptic & neuronal markers will also be explored.

Aim 4:

Specific Aim 4: Evaluate how amyloid-beta and tau species in insoluble and soluble fractions of the brain and pathologic features measured by immunohistochemistry in formalin-fixed brain tissue are correlated with each other, as well as with the cross-sectional value and longitudinal changes in other imaging/CSF biomarkers (e.g., amyloid PET, tau PET, CSF amyloid-beta, total tau, and phospho-tau), and with clinical and cognitive outcomes, and how these correlations are altered by the active treatments.

Investigator:

Tammie Benzinger

Title:

Quantification of Neuroinflammation in Autosomal Dominant Alzheimer's Disease Using Small-block Brain Specimen imaged by Diffusion Basis Spectrum Imaging (DBSI)

Date of Request:

08/16/2022

Aim 1:

assess the value of DBSI for the study of ADAD by comparing post-mortem MRI signals with histologic data

Investigator:

David Gate

Title:

Comparing active and passive Abeta vaccination by spatial transcriptomics

Date of Request:

07/25/2022

Aim 1:

Identify spatial transcriptomic changes associated with Aβ vaccination.

Investigator:

Jinlong Yu

Title:

Install APP A673T mutation for treatment of AD

Date of Request:

05/20/2022

ID:

DR_022

Aim 1:

To optimize the base editor condition in AD patients IPSC derived neurons.

Aim 2:

Test if the additional E674K mutation base editing introduced modulates the Aβ peptides production and Aβ peptides ‘s toxicity

Investigator:

Ifrah zawar

Title:

Csf biomarkers in seizures among AD patients

Date of Request:

04/11/2022

Status:

Closed

ID:

DR_020

Aim 1:

To study the differences in csf biomarkers in AD patients with and without seizures

Investigator:

Bateman/Benzinger

Title:

ASNR White Paper on ARIA

Date of Request:

02/08/2022

Aim 1:

Training of Radiologists and Neuroradiologists

Aim 2:

Enhance physician understanding of ARIA in order to improve detection and reporting. Additionally, the objective is to provide physicians with imaging examples of the severity grading of ARIA as well as pointing out potential pitfalls in interpretation

Investigator:

Giuseppina Tesco

Title:

Study of endolysosomal alterations (including exosomes) in brain cells cultures derived from fDA iPSC lines and isogenic controls

Date of Request:

01/24/2022

Status:

Referred to Obs

Aim 1:

Study of endolysosomal alterations (including exosomes) in brain cells cultures derived from fDA iPSC lines and isogenic controls

Investigator:

Colin Masters

Title:

CSF Abeta42 and p-tau level review

Date of Request:

12/08/2021

ID:

DR_018

Aim 1:

To provide further information regarding ex-participant 3031007's mutation and pathogenic status. V2 28 May15 CSF Abeta42 and p-tau levels to be reviewed.

Investigator:

Jan Torleif Pedersen, PhD MSc

Title:

Investigation of pS396-tau in samples from DIAN-TU biobank

Date of Request:

12/03/2021

Status:

Referred to Obs

ID:

DR_017

Aim 1:

To investigate pS396-tau levels in CSF samples from DIAN-TU

Aim 2:

To investigate pT217-tau levels in CSF samples from DIAN-TU

Aim 3:

To establish potential correlation between pS396-tau, pT217-Tau and clinical progression parameters

Aim 4:

To investigate tau species in post-mortem brain material targeted by Lu AF87908

Investigator:

Antonio Boza-Serrano

Title:

Galectin-3 as a prognostic biomarker to monitor Autosomal dominant Alzheimer Disease’s progression and response to gantenerumab.

Date of Request:

10/29/2021

Status:

Pending

ID:

DR_015

Aim 1:

To evaluate if gal3 levels in ADAD samples might track /monitor the progression of AD pathology and whether or not gal3 levels are altered under the different treatment evaluated with the patients (gantenerumab)

Aim 2:

To compare the levels of gal3 with the classic biomarkers of pathology progression (amyloid-beta 42, total tau, p-tau181, NfL and PIB-Pet) evaluated in CSF and serum over the DIAN-TU study in placebo, ganterenumab treated patients.

Investigator:

Ron Davis

Title:

Unraveling the complexity of mitochondrial pathology in familial Alzheimer's disease

Date of Request:

09/14/2021

Status:

Referred to Obs

ID:

DR_014

Aim 1:

Use high-content and high-throughput assay to quantify the MT dynamics phenotypes that develop in neurons derived from iPSCs of fAD subjects and age-matched and/or isogenic controls.

Aim 2:

Define the functional impairment in these neurons (IMM-inner mitochondrial membrane potential).

Aim 3:

Interrogate the function of the electron transport chain (ETC) in these neurons.

Aim 4:

Measure the structural integrity of MT, the ETC, and MT-related processes in these neurons by quantitative Western blotting of proteins and/or tandem mass tag quantitative mass spectroscopy.

Investigator:

N/A

Title:

Relationship between regional baseline and longitudinal tau PET SUVR, and correlations with change in cognition in participants from the DIAN-TU study

Date of Request:

07/19/2021

Status:

Approved

ID:

DR_013

Aim 1:

Characterize the spatial patterns of tau deposition at baseline and over time in the DIAD population

Aim 2:

Estimate the rate of change in tau deposition in DIAD participants in each of the provided parcellated brain regions

Aim 3:

Identify the (meta)ROI(s) at baseline that best correlate with change in tau PET SUVR and change in cognition, respectively, over time

Aim 4:

Characterize the relationship between change in tau PET SUVR and change in cognition (and other biomarkers)

Investigator:

Mariah S. Hahn

Title:

Targeting Dysregulated Synapse and Proteostasis Mechanisms in Alzheimer's Disease

Date of Request:

06/01/2021

Status:

Referred to Obs

ID:

DR_012

Aim 1:

Develop a 3D culture system compatible with long-term (>3 month) iNeuron culture, extension, synapse formation and elimination, and quantitative assessment of neural circuit activity using “healthy” networks.

Aim 2:

Compare AD_(PSEN1)-iNeuron cultures to iNeuron cultures derived from unaffected family member controls with respect to Aβ, tau phosphorylation, synapse maintenance and proteostasis.

Investigator:

Yan Li

Title:

Gain Precision on the Measurement of Cognitive Impairment – Item Response Theory Scoring of the CDR

Date of Request:

05/11/2021

Status:

Pending

ID:

DR_011

Aim 1:

Evaluate the difficulty and discrimination level, and the longitudinal change of each item in CDR and their longitudinal change over time

Aim 2:

Develop the best fitting item response theory (IRT) model for automatically scoring dementia severity (IRT score)

Aim 3:

Compare the performance of the IRT score with that of the CDR sum of box in terms of powering a clinical trial and precision in tracking cognitive change over time, especially for cognitively normal participants

Aim 4:

Valid the performance of the IRT score using other psychometric measures and biomarkers.

Investigator:

Suman Jayadev

Title:

Peripheral immune profiles in ADAD

Date of Request:

04/20/2021

Status:

Pending

ID:

DR_016

Aim 1:

Measure immune related microRNA, exosome, proteins in carriers and non-carriers

Investigator:

NA

Title:

Proposal for comparison between Dominantly Inherited Alzheimer Disease and sporadic early-onset Alzheimer’s disease

Date of Request:

05/20/2020

Status:

Pending

ID:

DR_002

Aim 1:

To compare clinical presentation, neuropsychological performance and cognitive decline rate between DIAD and sporadic EOAD

Aim 2:

To examine in vivo the regional distribution of tau, amyloid-beta, brain glucose metabolism, and structural atrophy, as well as their relationships, in DIAD and sporadic EOAD

Aim 3:

To compare CSF biomarkers levels and rates of change in DIAN and sporadic EOAD

Investigator:

NA

Title:

Imaging-Histology Comparisons of Tau Pathology in ADAD and LOAD

Date of Request:

04/21/2020

Status:

Approved

ID:

DR_001

Aim 1:

Perform a quantitative comparison of tau pathology in ADAD and LOAD using imaging and histology