Spastic Paraplegia - Centers of Excellence Research Network
NCT Number: NCT06553976
Acronym: SP-CERN
Status: RECRUITING
Study Type: OBSERVATIONAL
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
Sponsor: Boston Children's Hospital
Collaborators: Massachusetts General Hospital|Columbia University|University of Miami|University of Michigan|Baylor College of Medicine|University of Texas Southwestern Medical Center|University of Washington|Children's Hospital Medical Center, Cincinnati|Seattle Children's Hospital|University of Iowa
Sex: ALL
Age: CHILD, ADULT, OLDER_ADULT
Enrollment: 100
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-06-04
Completion Date: 2027-06-04
Locations: University of Miami Miller School of Medicine, Miami, Florida, 33136, United States|University of Iowa Carver College of Medicine, Iowa City, Iowa, 52242, United States|Boston Children's Hospital, Boston, Massachusetts, 02215, United States|Massachusetts General Hospital, Boston, Massachusetts, 02215, United States|University of Michigan School of Medicine, Ann Arbor, Michigan, 48109, United States|Columbia University - Irving Medical Center, New York, New York, 10032, United States|Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, 45229-3039, United States|Scottish Rite for Children, Dallas, Texas, 75219, United States|Texas Children's Hospital, Houston, Texas, 77035, United States|Seattle Children's Hospital, Seattle, Washington, 98105, United States|University of Washington School of Medicine, Seattle, Washington, 98195, United States

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).

Primary Outcome Measures: 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: 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