Collaborative research on Hereditary Spastic Paraplegia and Primary Lateral Sclerosis is essential for advancing diagnostics, clinical trials-readiness, and developing novel therapeutic approaches. These intertwined efforts mutually reinforce progress in understanding and addressing these neurological conditions.

The Spastic Paraplegia – Centers of Excellence Research Network (SP-CERN) Natural History Study aims to gather comprehensive information on various aspects of the condition, including clinical features and disease progression. The data collected through this natural history investigation will contribute to developing new therapies for HSP/PLS and guide counseling and symptomatic management. Additionally, the study will offer valuable insights into designing and selecting clinical trial endpoints for future therapeutic interventions.

Our Sponsor

The Spastic Paraplegia Foundation (SPF) stands as a beacon of hope and a catalyst for change in the realm of HSP and PLS research. With their dedication to advancing knowledge and improving the lives of individuals affected by hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS), SPF serves as a driving force in the quest for scientific breakthroughs.

Through generous funding and unwavering support, SPF enables groundbreaking initiatives like the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). 

As fellow researchers, we are inspired by SPF’s tireless advocacy and unwavering dedication to the cause. Their visionary leadership and commitment to excellence set a shining example for all of us in the scientific community. Together, we are excited to work with SPF in the pursuit of knowledge and hope for those living with spastic paraplegia. 

Introduction of the Spastic Paraplegia – Centers of Excellence Research Network at the Spastic Paraplegia Foundation Meeting in St. Louis, MO.

Guiding Principle

A carefully designed multi-center network fosters collaboration, leverages diverse expertise, optimizes resource utilization, and accelerates the generation of critical data, ultimately advancing clinical trial readiness and improving healthcare outcomes.

Study Objectives

Aim1: To establish centers of excellence and organize the consortium (“Organize”)
Aim2: To develop a central research protocol (“Harmonize”)
Aim3: To test key elements in pilot projects (“Test”)

Participation Criteria:

In the initial 2-year-pilot phase of the SP-CERN Natural History Study, the study population will consist of patients of all ages with (1) a clinical and molecular diagnosis of hereditary spastic paraplegia type 4 (SPAST) or hereditary spastic paraplegia type 5A (CYP7B1).

To be eligible to participate in this study, candidates must meet the following eligibility criteria at screening:

Males and females of all ages
Molecular diagnosis of hereditary spastic paraplegia type 4 or type 5A
Presence of pathogenic or likely pathogenic variants in SPAST (SPG4) or bi-allelic variants in CYP7B1 (SPG5A)
Legally acceptable representatives must be able to attend all schedule study visits

Study Plan

Collaboration at both national and international levels is vital to establish anticipatory clinical trials in HSP and PLS, as well as to swiftly advance the improvement of diagnostic tools and therapies. The current proposal is designed to achieve critical steps that show the feasibility and productivity of the SP-CERN through 1) creating a robust organizational structure and operational plan, 2) creating a shared clinical database, biobank, genomic archive, 3) demonstrating enrollment of 100 individuals with HSP/PLS including comprehensive clinical testing and biological sample collection and storage.

Bring together a community of individuals affected by HSP and PLS
Establish a shared clinical database, biobank of biospecimen samples, and a central repository of genomic data
Train the next generation of clinicians and scientists
Facilitate the clinical testing of novel therapies
Increase access to high-quality healthcare for HSP and PLS patients
International collaboration
Synchronize and harmonize research worldwide