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

Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot

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).

Study Overview

• Status: Recruiting
• Conditions: Neuromuscular Diseases; Primary Lateral Sclerosis; Spastic Paraplegia, Hereditary; Hereditary Spastic Paraplegia; Early Onset Hereditary Spastic Paraplegia; SPG4; Spastic Paraplegia 5A; Spastic Paraplegia 4; SPG5A

Detailed Description

The hereditary spastic paraplegias (HSPs) include over 80 rare neurogenetic disorders, collectively representing the most prevalent cause of inherited spasticity and related disabilities globally. In all forms of HSP, there is a progressive deterioration of the long axonal tracts, resulting in substantial motor dysfunction and various other symptoms. Primary lateral sclerosis (PLS) is a related, degenerative neurological disorder characterized by the progressive deterioration of upper motor neurons. Both conditions result in muscle weakness and spasticity, with significant morbidity and impact on quality of life.

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). SP-CERN provides a registry and natural history study across the whole age span, a biobank, and a genome archive. This will set the stage for a multitude of opportunities for improved diagnosis and trial readiness. A second objective is to harmonize this effort with similar consortia, especially in Europe, in addition to Asia, South America, and Africa, to help accelerate basic and clinical research on HSP and PLS on a global level. In summary, SP-CERN will support critical research infrastructure for collaborative high-quality research on HSP and PLS in North America and beyond.

General aims include:

A. Establish a shared clinical database, a repository of biospecimen samples, and a central database for the storage of all genetic data in SP-CERN.

B. Synchronize and harmonize collaborations between institutions, clinical sites, and international collaborators through the development of a central research protocol in order to standardize outcome measures and maximize the quality of research and data to ensure clinical trial readiness by regulatory standards.

C. 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.

Specific aims for this first pilot study are:

1a. Enrollment of 100 individuals with genetically-confirmed hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.

1b. Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Darius Ebrahimi-Fakhari, MD, PhD.; Phone Number: 617-355-0097; Email: hsp.research@childrens.harvard.edu
• Study Contact Backup: Name: Nicole Battaglia, BS.; Phone Number: 617-919-7450; Email: hsp.research@childrens.harvard.edu

Study Locations

• United States
  • Florida
    • Miami, Florida, United States, 33136
      • Not yet recruiting
      • University of Miami Miller School of Medicine
      • Contact: Stephan Züchner, MD, PhD.; Phone Number: 305-989-7835
      • Contact: Yeisha Arcia, BS.
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • Not yet recruiting
      • University of Iowa Carver College of Medicine
      • Contact: Michael Shy, MD.; Phone Number: 319-356-7199
      • Contact: Nicole Kressin, MA.; Email: nicole-kressin@uiown.edu
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Recruiting
      • Boston Children's Hospital
      • Contact: Darius Ebrahimi-Fakhari, MD, PhD.; Phone Number: 617-355-0097; Email: hsp.research@childrens.harvard.edu
      • Contact: Nicole Battaglia, BS.; Phone Number: 617-919-7450; Email: hsp.research@childrens.harvard.edu
    • Boston, Massachusetts, United States, 02215
      • Not yet recruiting
      • Massachusetts General Hospital
      • Contact: Craig Blackstone, MD, PhD.; Phone Number: 866-934-3881
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Not yet recruiting
      • University of Michigan School of Medicine
      • Contact: John Fink, MD.
  • New York
    • New York, New York, United States, 10032
      • Not yet recruiting
      • Columbia University - Irving Medical Center
      • Contact: Matthew Harms, MD.
  • Ohio
    • Cincinnati, Ohio, United States, 45229-3039
      • Not yet recruiting
      • Cincinnati Children's Hospital Medical Center
      • Contact: Donald Gilbert, MD.; Phone Number: 513-636-2724
      • Contact: Christi Banks, CIP; Email: christi.banks@cchmc.org
  • Texas
    • Dallas, Texas, United States, 75219
      • Not yet recruiting
      • Scottish Rite for Children
      • Contact: Michelle Christie, MD.; Phone Number: 214-559-7830
      • Contact: Linsley Smith, BS.; Email: linsley.smith@tsrh.org
    • Houston, Texas, United States, 77035
      • Not yet recruiting
      • Texas Children's Hospital
      • Contact: Daniel Calame, MD, PhD.; Phone Number: 832-492-4843
      • Contact: Taylor Leonard, BS.; Email: taylor.leonard@bcm.edu
  • Washington
    • Seattle, Washington, United States, 98105
      • Not yet recruiting
      • Seattle Children's Hospital
      • Contact: Dararat Mingbunjerdsuk, MD.; Phone Number: 206-987-2078
      • Contact: Jacquline Lee-Eng, BS.; Email: jacqueline.lee-eng@seattlechildrens.org
    • Seattle, Washington, United States, 98195
      • Not yet recruiting
      • University of Washington School of Medicine
      • Contact: Marie Davis, MD, PhD; Phone Number: 206-598-4030
      • Contact: Sarah Simon, BS.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• 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).

Exclusion Criteria:

• Not having such a diagnosis and/or not being related to such individual.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN.	2 years
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.	2 years
Test key elements in pilot projects	2 years
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.	2 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.	2 years
Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.	2 years

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: Massachusetts General Hospital; Baylor College of Medicine; University of Miami; Columbia University; University of Michigan; University of Iowa; University of Washington; Seattle Children's Hospital; University of Texas Southwestern Medical Center; Children's Hospital Medical Center, Cincinnati

Publications and helpful links

Helpful Links

• Spastic Paraplegia - Centers of Excellence Research Network Website

Study record dates

Study Major Dates

• Study Start (Actual): June 4, 2024
• Primary Completion (Estimated): June 4, 2026
• Study Completion (Estimated): June 4, 2027

Study Registration Dates

• First Submitted: August 12, 2024
• First Submitted That Met QC Criteria: August 12, 2024
• First Posted (Actual): August 14, 2024

Study Record Updates

• Last Update Posted (Actual): March 18, 2026
• Last Update Submitted That Met QC Criteria: March 16, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Hereditary Sensory and Motor Neuropathy; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Motor Neuron Disease; Neuromuscular Diseases; Spastic Paraplegia, Hereditary; Spastic Paraplegia Type 4
• Other Study ID Numbers: P00047458

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No