Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT06553976

Conditions

Hereditary Spastic Paraplegia

Primary Lateral Sclerosis

SPG4

SPG5A

Spastic Paraplegia 4

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT06553976

Start date

Jun 4, 2024

Status verified date

Mar, 2026

Completion date

Jun 4, 2027

Anticipated

Primary completion date

Jun 4, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN. [ Time Frame: 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. [ Time Frame: 2 years ]
  • Test key elements in pilot projects [ Time Frame: 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. [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

Darius Ebrahimi-Fakhari, MD, PhD.

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

Nicole Battaglia, BS.

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

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02215

Contacts

Darius Ebrahimi-Fakhari, MD, PhD.

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

Nicole Battaglia, BS.

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

More Information

Sponsor

Boston Children's Hospital

Last update posted

Mar 18, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-03-18.