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. 2025 Feb 21;11(2):e200249.
doi: 10.1212/NXG.0000000000200249. eCollection 2025 Apr.

The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia

Luca Schierbaum  1 , Vicente Quiroz  1 , Kathryn Yang  1 , Joshua Rong  1 , Nicole Battaglia  1 , Umar Zubair  1 , Michelle Christie  2 , Marie Davis  3 , Daniel Calame  4 , Matt C Danzi  5 , Richard S Finkel  6 , Joshua Burns  7 , Donald L Gilbert  8 , Dararat Mingbunjerdsuk  9 , Greg Pruitt  10 , Norma Pruitt  10 , John Cobb  10 , Reza Sadjadi  11 , Christopher R Cashman  11 , Craig Blackstone  11 , John K Fink  12 , Michael E Shy  13 , Stephan Zuchner  5 , Darius Ebrahimi-Fakhari  1
Affiliations

The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia

Luca Schierbaum et al. Neurol Genet. .

Abstract

Objectives: The primary objective of this paper was to present the establishment of the Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN) aimed at promoting clinical trial readiness for hereditary spastic paraplegia (HSP). SP-CERN is unique in its approach to addressing the diagnostic and therapeutic challenges associated with HSP through a large-scale, collaborative effort.

Methods: Participants with HSP are identified through multicenter collaborations across 11 institutions in the United States. SP-CERN systematically collects longitudinal clinical data, biospecimens, and wearable device data from patients. Data are stored in a centralized REDCap database, facilitating shared access for analysis. Patients are evaluated using standardized assessment tools for motor function, biomarkers, and digital outcome measures.

Results: SP-CERN has established a biorepository, centralized data collection methods, and standardized clinical assessments. It is conducting natural history studies for all HSP subtypes, enabling the validation of biomarkers and development of gene-based therapies.

Discussion: SP-CERN's collaborative approach bridges gaps in clinical care and research for HSP by improving diagnostic capabilities and promoting clinical trial readiness. This initiative represents a framework for rare disease research, accelerating the development of novel therapies and improving patient outcomes through standardized, multi-institutional collaboration.

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Conflict of interest statement

L. Schierbaum was supported by a fellowship from the German Research Foundation (536105452). V. Quiroz reports a fellowship from the Movement Disorders Society—Pan America Section. C. Cashman was supported by the Johns Hopkins Merkin Peripheral Neuropathy and Nerve Regeneration Center and American Neuromuscular Foundation. J.K. Fink gratefully acknowledges support from the Paul and Lois Katzman Family and the Gao Hai-Feng family. D. Ebrahimi-Fakhari has received research funding from the NIH/NINDS, CureAP4 Foundation, CureSPG50 Foundation, Spastic Paraplegia Foundation, Tom Wahlig Foundation, Un raggio di Sole per Martina, Manton Center for Orphan Disease Research, BCH Office of Faculty Development, and BCH Translational Research Program and Astellas Pharmaceuticals. Go to Neurology.org/NG for full disclosures.

Figures

Figure
Figure. Overview of the Spastic Paraplegia–Centers of Excellence Research Network
Multidisciplinary teams at 11 institutions across the United States support the initial phase of the Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN). The institution and site investigators are indicated. Centers for children and young adults with HSP are indicated in magenta. Centers for adults with HSP are indicated in blue. For more information, visit spcern.childrenshospital.org.
See this image and copyright information in PMC

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