About SP-CERN

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.

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

Aim 1: Create the central infrastructure of SP-CERN by developing three central core units:

1a: Establish a Central Administrative Core
1b: Establish a Career Enhancement Core
1c: Establish a Pilot/Feasibility Project Core

Aim 2: Conduct three Clinical Research Projects to meet critical unmet needs in HSP research:

2a: Establish a clinical trial readiness platform for HSP
2b: Develop genomic resources and studies for SP-CERN
2c: Investigate digital surrogates for disease progression in HSP

Aim 3: Contribute to the RDCRN and Rare Disease Community:

3a: Build a collaborative network with patient advocacy groups
3b: Harmonize the SP-CERN study protocol internationally
3c: Contribute to the RDCRN’s broader mission

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

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

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).

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

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).