Pilot Project Core

Boston Children'S Hospital, Boston MA

Investigators

Abstract

ABSTRACT/SUMMARY: The Spastic Paraplegia Centers of Excellence - Research Network (SP-CERN) - RDCRC aims to establish a Pilot/Feasibility Core to support innovative research projects focused on advancing the diagnosis, clinical trial readiness, and treatment of Hereditary Spastic Paraplegia (HSP). HSP is a debilitating neurogenetic disorder, with no current disease-modifying therapies available. The broad, long-term objective of this initiative is to facilitate groundbreaking research that addresses critical gaps in our understanding and treatment of HSP, ultimately improving clinical outcomes and the quality of life for affected individuals. The specific aims of this core are several: Firstly, the core seeks to provide up to $50,000 per project for single or multi-site pilot studies that concentrate on developing novel diagnostic tools, clinical outcome measures, and therapeutic approaches for HSP. Up to two projects will be funded annually, with the possibility of additional support through partnerships with international consortia and patient advocacy groups. This support will enable innovative translational research, which is essential for responding rapidly to new opportunities and unmet needs arising from recent discoveries in genomics, gene replacement/editing, small molecule development, and clinical outcome measures in HSP. Secondly, the core will promote collaboration within the SP-CERN network and with external entities. This includes fostering partnerships with international researchers, other consortia, and patient advocacy groups, thereby leveraging diverse expertise and resources to enhance the quality and impact of the research conducted. These collaborations are crucial for standardizing clinical evaluation protocols, facilitating longitudinal studies, and adapting successful models from the SP-CERN to other global networks. Thirdly, the core aims to enhance clinical trial readiness by developing and validating biomarkers and clinical outcome measures essential for the successful execution of clinical trials. This includes establishing standardized protocols and facilitating longitudinal studies to track disease progression and treatment efficacy. Additionally, the core will actively encourage junior investigators and senior researchers exploring new directions to lead pilot projects. This nurturing of the next generation of scientists is vital for expanding the research landscape for HSP and ensuring sustained progress in the field. Junior investigators will benefit from project support that can "jump-start" their path to independence, while senior researchers will have the opportunity to open novel pathways for their research.