Objective: Expansion of a carefully curated resource for clinical and biosample data to address a critical need for biomarker discovery in Atypical Parkinsonisms and related conditions.

Background: Reliable natural history, and most importantly positive and differential diagnosis, are major challenges in Atypical Parkinsonisms. The NINDS Parkinson’s Disease Biomarkers Program (PDBP) promotes discovery of biomarker candidates for early detection and measurement of disease progression. The PDBP Consortium started in 2012, with 11 original projects funded. The PDBP has generated a resource of longitudinally collected data and biosamples from well-characterized patients with PD, related conditions, and controls, and it includes hypothesis-driven biomarker discovery projects. With the infrastructure in place, the program recently expanded to include subjects with Atypical Parkinsonisms and other movement disorders, including Multiple System Atrophy (MSA), Corticobasal Degeneration (CBD), Progressive Supranuclear Palsy (PSP), Essential Tremor (ET), and Dementia with Lewy Bodies (DLB).

Methods: PDBP sites collect standardized longitudinal clinical data as well as biospecimens from patients and healthy control subjects which are housed in the Data Management Resource (DMR) online database for broad access to the scientific community. Biospecimens are banked at the NINDS Biorepository (BioSEND).

Results: 29 clinical sites have contributed data to PDBP, and 32 individual studies are associated. Currently, the PDBP Data Management Resource (DMR) online database includes 75 PSP cases, 39 ET cases, 41 MSA cases, 40 DLB cases, and 7 CBD cases. Cases include detailed phenotype information, with associated biosamples that are actively incorporated into ongoing research projects. The average age at diagnosis ranges from 49 for ET, to 69 for PSP. A family history of dementia is relatively common, with the highest prevalence in PSP (43%). Ongoing studies are utilizing multiple platforms for biomarker discovery and validation including combinatorial imaging, epigenetics, transcriptomics, and proteomics.

Conclusions: By integrating and harmonizing clinical data and biospecimens allowing for broad sharing, the PDBP can serve as a critical element in the discovery of diagnostic and differential biomarkers for parkinsonian syndromes and related conditions.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-ninds-parkinsons-disease-biomarkers-program-utilizing-a-major-biomarker-resource-to-address-atypical-parkinsonisms-and-related-conditions/