Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRC

Boston Children'S Hospital, Boston MA

Investigators

Abstract

PROJECT ABSTRACT/SUMMARY: The hereditary spastic paraplegias (HSPs) are a diverse group of over 80 neurodegenerative disorders characterized by progressive spasticity and weakness of the lower extremities, leading to significant disability and reduced quality of life. Despite the growing understanding of the genetic basis of HSPs, therapeutic options remain limited, leaving a critical unmet medical need. The Spastic Paraplegia Centers of Excellence - Research Network (SP-CERN) - RDCRC is a collaborative consortium designed to accelerate the development of effective treatments for HSPs by uniting leading researchers, clinicians, and patient advocacy groups. SP-CERN will focus on three primary objectives: (1) advancing research to identify and validate therapeutic targets, (2) promoting clinical trial readiness by standardizing outcome measures and biomarker development, and (3) fostering collaboration across institutions to share resources and expertise. The SP-CERN - RDCRC features an administrative core, a pilot project core aimed at supporting innovative ideas and addressing emerging themes dynamically, and a career enhancement core poised to support the next generation of clinician-scientist leaders in the field of rare disease research and HSP. The consortium also supports three longitudinal Clinical Research Projects aimed at creating clinical trial readiness through natural history studies, developing a platform approach to gene therapies, advancing diagnostic yield and gene discovery through new genomic tools and machine learning applications, and using digital biomarkers as novel surrogates for disease progression. This integrated approach aims to bridge the gap between basic research and clinical applications, ensuring that scientific discoveries translate into tangible benefits for patients. Through a combination of innovative research strategies, including genetic studies and clinical trials, SP-CERN will address the complexities of HSPs and pave the way for novel therapeutic interventions. The consortium's efforts will be supported by a robust infrastructure that facilitates data sharing, patient engagement, and collaboration among participating institutions. By establishing the SP-CERN RDCRC, this project will create a sustainable framework for the development of therapies that can improve the lives of individuals affected by HSPs, ultimately contributing to a reduction in the burden of these disorders on patients, families, and the healthcare system.