The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). Aims of the consortium are to a) perform natural history studies of HSP subtypes, b) discover and validate biomarkers and clinician- and patient-reported outcome measures, c) uncover HSP's molecular pathophysiology and develop rational therapeutic targets, and d) perform sufficiently powered clinical trials. The current pilot study is aimed at enrolling 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A).
Male or female patients of all ages with a clinical and molecular diagnosis of hereditary spastic paraplegia type 4 (SPG4, SPAST) or hereditary spastic paraplegia type 5A (SPG5A, CYP7B1).
Not having such a diagnosis and/or not being related to such individual.
This study will enroll individuals with a known clinical and molecular diagnosis of spastic hereditary paraplegia type 4 (SPG4, SPAST) or Hereditary Spastic Paraplegia type 5A (SPG5A, CYP7B1), and/or their family members of interest (if applicable). We plan to enroll at least 100 individuals under a shared regulatory, data, and sample infrastructure over a 2-year time period.
Cohort
Prospective
Not listed
Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN.
Synchronize collaborations between institutions and clinical sites through a central research protocol to standardize outcome measures and maximize the quality of research and data to ensure clinical trial readiness by regulatory standards.
Test key elements in pilot projects
Build comprehensive programs for advancements in diagnosis, provide more opportunities for innovative treatments, and increase access to high-quality healthcare for HSP and PLS patients.
Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.
Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.
Click on the lead sponsor to view all of their trials.
Boston Children's Hospital
Lead sponsor
Massachusetts General Hospital
Collaborator
Columbia University
Collaborator
University of Miami
Collaborator
University of Michigan
Collaborator
Baylor College of Medicine
Collaborator
University of Texas Southwestern Medical Center
Collaborator
University of Washington
Collaborator
Children's Hospital Medical Center, Cincinnati
Collaborator
Seattle Children's Hospital
Collaborator
University of Iowa
Collaborator
