Spastic Paraplegia - Centers of Excellence Research Network

NCT ID: NCT06553976

Last Updated: 2024-12-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-06-04

Study Completion Date

2027-06-04

Brief Summary

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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

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Massachusetts General Hospital

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role collaborator

University of Miami

OTHER

Sponsor Role collaborator

University of Michigan

OTHER

Sponsor Role collaborator

Baylor College of Medicine

OTHER

Sponsor Role collaborator

University of Texas Southwestern Medical Center

OTHER

Sponsor Role collaborator

University of Washington

OTHER

Sponsor Role collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role collaborator

Seattle Children's Hospital

OTHER

Sponsor Role collaborator

University of Iowa

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Darius Ebrahimi-Fakhari

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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University of Miami Miller School of Medicine

Miami, Florida, United States

Site Status NOT_YET_RECRUITING

University of Iowa Carver College of Medicine

Iowa City, Iowa, United States

Site Status NOT_YET_RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status NOT_YET_RECRUITING

University of Michigan School of Medicine

Ann Arbor, Michigan, United States

Site Status NOT_YET_RECRUITING

Columbia University - Irving Medical Center

New York, New York, United States

Site Status NOT_YET_RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status NOT_YET_RECRUITING

Scottish Rite for Children

Dallas, Texas, United States

Site Status NOT_YET_RECRUITING

Texas Children's Hospital

Houston, Texas, United States

Site Status NOT_YET_RECRUITING

Seattle Children's Hospital

Seattle, Washington, United States

Site Status NOT_YET_RECRUITING

University of Washington School of Medicine

Seattle, Washington, United States

Site Status NOT_YET_RECRUITING

Countries

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United States

Central Contacts

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Darius Ebrahimi-Fakhari, MD, PhD.

Role: CONTACT

Phone: 617-355-0097

Email: [email protected]

Nicole Battaglia, BS.

Role: CONTACT

Phone: 617-919-7450

Email: [email protected]

Facility Contacts

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Stephan Züchner, MD, PhD.

Role: primary

Yeisha Arcia, BS.

Role: backup

Michael Shy, MD.

Role: primary

Nicole Kressin, MA.

Role: backup

Darius Ebrahimi-Fakhari, MD, PhD.

Role: primary

Nicole Battaglia, BS.

Role: backup

Craig Blackstone, MD, PhD.

Role: primary

John Fink, MD.

Role: primary

Matthew Harms, MD.

Role: primary

Donald Gilbert, MD.

Role: primary

Christi Banks, CIP

Role: backup

Michelle Christie, MD.

Role: primary

Linsley Smith, BS.

Role: backup

Daniel Calame, MD, PhD.

Role: primary

Taylor Leonard, BS.

Role: backup

Dararat Mingbunjerdsuk, MD.

Role: primary

Jacquline Lee-Eng, BS.

Role: backup

Marie Davis, MD, PhD

Role: primary

Sarah Simon, BS.

Role: backup

Related Links

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https://spcern.childrenshospital.org/

Spastic Paraplegia - Centers of Excellence Research Network Website

Other Identifiers

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P00047458

Identifier Type: -

Identifier Source: org_study_id