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).

CT.gov Identifier
NCT06553976
EudraCT Identifier
N/A
CTIS:
N/A
Sponsor
University of Iowa
Collaborator
University of Washington, Baylor College of Medicine, Massachusetts General Hospital, Boston Children’s Hospital, Columbia University, Seattle Children's Hospital, University of Miami, University of Michigan, University of Texas Southwestern Medical Center, Cincinnati Children's Hospital Medical Center-Burnet Campus
Study Contact Information
N/A
Recruiting
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Study Details

Diseases
Alport syndrome
Study Drug
No drug
Genes
COL4A4
COL4A3
Study Dates
Jun 2024 - Jun 2026
Sex
Female & Male
Age
N/A
Inclusion and Exclusion Criteria
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.

Protocol 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).

Study Locations

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