Location:
National Institutes of Health, Bethesda, MD
Sponsors: National Institute of Neurological Disorders and Stroke, CHDI, and Wave Life Sciences
Purpose: To convene grantees funded under PAR12-097 and stakeholders in the HD biomarkers community to discuss recent advances and define future directions for HD biomarker development and data sharing.
Background : In 2013, NINDS held a workshop that brought together HD researchers involved in completed and ongoing cohort studies. During this workshop, various working groups identified recommendations for next steps in HD biomarker development and data sharing. In response to these recommendations, NINDS funded 11 grants (2-3 years in duration) through the Ancillary Studies in PREDICT-HD PAR12-097. The current workshop was designed as a forum for grantees to report back on these on these activities, outline lessons learned and define upcoming challenges for HD biomarker research.
Summary of meeting discussion: Four modality-specific sessions (imaging, biofluids, genetics, and multimodal/data integration) were convened over one and a half days to address HD biomarker challenges. The main themes to arise from these sessions were: 1) Although data sharing is a desired goal among all stakeholders, the infrastructure and buy-in necessary to facilitate it are perceived to be lacking ; 2) Standardizing sample collection and data reporting are critical while also maintaining the ability to adapt to new assay needs and optimization; 3) Genetic data have widespread utility and should be included in every HD clinical study, should be reported in a standardized manner, and should include unique identifiers to facilitate use in future analyses and other studies with the same patients; 4) Enhancing data integration from large-scale studies could help synergize biomarkers across multiple modalities.
Conclusions: In response to the overarching recommendation to ensure efficient sharing of Predict-HD data, NINDS staff are working with investigators in the HD community to ensure that all data and biospecimens from the NINDS-supported Predict-HD and Ancillary studies are publicly available from dbGaP (data) and BioSEND (specimens). Additionally, BioSEND is in the process of establishing CSF reference samples from pooled sample remainders, for use in standardization studies across labs, while also establishing standards for sample collection. As part of an effort to encourage broad sharing and use, participants suggested publishing a landscape paper to summarize the Predict-HD imaging, genetic, and biospecimens products available for sharing, and to highlight the studies’ central findings on premanifest biomarkers in HD. These efforts would permit investigators to take further advantage of these valuable data resources and highlight NINDS’ investment in this area.