This study establishes a biospecimen repository for Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Corticobasal Syndrome (CBS), and related neurodegenerative disorders. The repository collects DNA, plasma, cerebrospinal fluid (CSF), and tissue samples to support research on disease mechanisms, biomarkers, and therapeutic development[1].
| Parameter | Value |
|---|---|
| NCT Number | NCT05067192 |
| Status | Recruiting |
| Study Type | Observational |
| Conditions | PSP, CBS, CBD, FTLD |
| Sites | Multiple US sites through NIH CTSA program |
PSP and CBD belong to a group of neurodegenerative disorders classified as tauopathies, characterized by abnormal accumulation of the tau protein in the brain[2]. These disorders share common pathological features but present with distinct clinical phenotypes.
PSP is a 4R-tauopathy resulting from microtubule-associated protein tau (MAPT) pathology[3]. Key features include:
CBD is another 4R-tauopathy presenting with asymmetric cortical and extrapyramidal features[4]:
FTLD encompasses a heterogeneous group of disorders with frontal and temporal lobe degeneration[5]. Many cases show tau pathology (FTLD-tau) while others demonstrate TDP-43 pathology (FTLD-TDP).
Establish a Centralized Biobank: Create a well-characterized repository of biospecimens from patients with PSP, CBD, CBS, and related disorders
Enable Genetic Studies: Support genetic and genomic analyses to identify:
Advance Biomarker Development: Facilitate identification and validation of biomarkers for:
Support Therapeutic Development: Create resources for:
| Sample Type | Volume | Processing | Storage |
|---|---|---|---|
| EDTA whole blood | 10 ml | DNA extraction | -80°C |
| Serum | 10 ml | Centrifugation, aliquot | -80°C |
| Plasma (EDTA) | 10 ml | Centrifugation, aliquot | -80°C |
| PAXgene RNA | 2.5 ml | RNA extraction | -80°C |
CSF collection follows standardized protocols to minimize variability:
In selected cases, skin biopsies are collected:
Alongside biospecimens, the repository maintains:
The repository enables comprehensive genetic analyses:
Biospecimens support biomarker discovery and validation[6:1]:
| Biomarker | Source | Clinical Application |
|---|---|---|
| Neurofilament light chain (NfL) | CSF, plasma | Disease progression[8] |
| p-tau181/217/231 | CSF, plasma | Diagnostic specificity |
| Total tau | CSF | Neurodegeneration marker |
| Beta-amyloid | CSF | AD comorbidity screening |
| Alpha-synuclein | CSF, plasma | Lewy body pathology |
The repository is linked with neuroimaging studies[9]:
Biospecimens enable mechanistic research:
Well-characterized biospecimens enable:
Natural history data support:
The repository enables:
Diagnosis: Confirmed or suspected diagnosis of:
Age: Any age
Ability to Donate Biospecimens:
Consent: Willingness to consent to:
The study operates through the NIH Clinical and Translational Science Awards (CTSA) program, providing:
The repository supports:
The repository has contributed to advances in:
For clinical trials[7:2]:
Frontotemporal dementia and related disorders: from molecules to therapeutics. Brain. 2020. ↩︎ ↩︎ ↩︎
Tauopathies: classification and clinical presentation. Journal of Neurology. 2021. ↩︎ ↩︎
Clinical diagnostic criteria for progressive supranuclear palsy. Movement Disorders. 2017. ↩︎ ↩︎
Clinical criteria for corticobasal syndrome. Movement Disorders. 2020. ↩︎ ↩︎
Clinical features of frontotemporal dementia. Journal of Neurology, Neurosurgery & Psychiatry. 2011. ↩︎ ↩︎
Fluid biomarkers in neurodegenerative disease. Current Opinion in Neurology. 2018. ↩︎ ↩︎ ↩︎
Clinical trials in frontotemporal dementia and related disorders. Alzheimer's & Dementia. 2023. ↩︎ ↩︎ ↩︎ ↩︎
Neurofilament light chain as a biomarker in neurodegenerative disorders. Journal of Neurology. 2022. ↩︎ ↩︎
Neuroimaging biomarkers for neurodegenerative disorders. Molecular Psychiatry. 2018. ↩︎ ↩︎
Biomarkers for tauopathies: current status and future directions. Nature Reviews Neurology. 2022. ↩︎
Update on biomarkers in neurodegenerative diseases. Current Neurology and Neuroscience Reports. 2023. ↩︎
Neuropathology of tauopathies: an update. Acta Neuropathologica. 2022. ↩︎
Biomarker validation in tauopathies. Brain. 2021. ↩︎