Clinical trial NCT06553976: Spastic Paraplegia - Centers of Excellence Research Network
Official title: Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
name: Columbia University
name: University of Miami
name: University of Michigan
name: Baylor College of Medicine
name: University of Texas Southwestern Medical Center
name: University of Washington
name: Children's Hospital Medical Center, Cincinnati
name: Seattle Children's Hospital
name: University of Iowa
First posted: 2024-08-14
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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).

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.

Eligibility 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.

Primary outcomes:
measure: Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN.
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
measure: Test key elements in pilot projects
timeFrame: 2 years
measure: 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.
timeFrame: 2 years
Secondary outcomes:
measure: Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.
timeFrame: 2 years
measure: Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.
timeFrame: 2 years
Other outcomes:
Locations:
city: Miami
country: United States
facility: University of Miami Miller School of Medicine
state: Florida
city: Iowa City
country: United States
facility: University of Iowa Carver College of Medicine
state: Iowa
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan School of Medicine
state: Michigan
city: New York
country: United States
facility: Columbia University - Irving Medical Center
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Dallas
country: United States
facility: Scottish Rite for Children
state: Texas
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Seattle
country: United States
facility: University of Washington School of Medicine
state: Washington
Study officials:
References: