Spastic Paraplegia - Centers of Excellence Research Network

NCT06553976 | Recruiting

• 1 other identifier: P00047458
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 11

Brief Summary

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).

Conditions

Hereditary Spastic Paraplegia; Primary Lateral Sclerosis; SPG4; SPG5A; Spastic Paraplegia 4; Spastic Paraplegia 5A; Early Onset Hereditary Spastic Paraplegia; Neuromuscular Diseases; Spastic Paraplegia, Hereditary

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (2)

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Boston Children's Hospital: lead
• 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

Study Sites (11)

University of Miami Miller School of Medicine

Miami, Florida, 33136, United States

NOT YET RECRUITING

University of Iowa Carver College of Medicine

Iowa City, Iowa, 52242, United States

NOT YET RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02215, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02215, United States

NOT YET RECRUITING

University of Michigan School of Medicine

Ann Arbor, Michigan, 48109, United States

NOT YET RECRUITING

Columbia University - Irving Medical Center

New York, New York, 10032, United States

NOT YET RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229-3039, United States

NOT YET RECRUITING

Scottish Rite for Children

Dallas, Texas, 75219, United States

NOT YET RECRUITING

Texas Children's Hospital

Houston, Texas, 77035, United States

NOT YET RECRUITING

Seattle Children's Hospital

Seattle, Washington, 98105, United States

NOT YET RECRUITING

University of Washington School of Medicine

Seattle, Washington, 98195, United States

NOT YET RECRUITING

Related Links

• Spastic Paraplegia - Centers of Excellence Research Network Website

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary; Motor Neuron Disease; Spastic Paraplegia Type 4; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Darius Ebrahimi-Fakhari, MD, PhD.

CONTACT

617-355-0097; hsp.research@childrens.harvard.edu

Nicole Battaglia, BS.

CONTACT

617-919-7450; hsp.research@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 12, 2024
• First Posted: August 14, 2024
• Study Start: June 4, 2024
• Primary Completion (Estimated): June 4, 2026
• Study Completion (Estimated): June 4, 2027
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

US (11)