Hereditary Spastic ParaplegiaSP-CERNNCT06553976
Spastic Paraplegia - Centers of Excellence Research Network
An observational study of Hereditary Spastic Paraplegia and Primary Lateral Sclerosis, run by Boston Children's Hospital at 11 sites in United States.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4
- How many people
- 100 participants
- Where
- 11 sitesUnited States
- Study dates
- 4 Jun 2024to 4 Jun 2027
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- Not having such a diagnosis and/or not being related to such individual.
Trial locations and contacts
11 sites in 1 country. Contact the study team or a site near you to ask about taking part.
11 sites in 1 country
United States11 sites, 11 recruiting
- Not yet recruiting
University of Michigan School of Medicine
Ann Arbor, Michigan, 48109
John Fink, MD.
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02215
Darius Ebrahimi-Fakhari, MD, PhD., 617-355-0097, hsp.research@childrens.harvard.edu
Nicole Battaglia, BS., 617-919-7450, hsp.research@childrens.harvard.edu
- Not yet recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02215
Craig Blackstone, MD, PhD., 866-934-3881
- Not yet recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229-3039
Donald Gilbert, MD., 513-636-2724
Christi Banks, CIP, christi.banks@cchmc.org
- Not yet recruiting
Scottish Rite for Children
Dallas, Texas, 75219
Michelle Christie, MD., 214-559-7830
Linsley Smith, BS., linsley.smith@tsrh.org
- Not yet recruiting
Texas Children's Hospital
Houston, Texas, 77035
Daniel Calame, MD, PhD., 832-492-4843
Taylor Leonard, BS., taylor.leonard@bcm.edu
- Not yet recruiting
University of Iowa Carver College of Medicine
Iowa City, Iowa, 52242
Michael Shy, MD., 319-356-7199
Nicole Kressin, MA., nicole-kressin@uiown.edu
- Not yet recruiting
University of Miami Miller School of Medicine
Miami, Florida, 33136
Stephan Züchner, MD, PhD., 305-989-7835
Yeisha Arcia, BS.
- Not yet recruiting
Columbia University - Irving Medical Center
New York, New York, 10032
Matthew Harms, MD.
- Not yet recruiting
Seattle Children's Hospital
Seattle, Washington, 98105
Dararat Mingbunjerdsuk, MD., 206-987-2078
Jacquline Lee-Eng, BS., jacqueline.lee-eng@seattlechildrens.org
- Not yet recruiting
University of Washington School of Medicine
Seattle, Washington, 98195
Marie Davis, MD, PhD, 206-598-4030
Sarah Simon, BS.
About this study
Official title: 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).
Read the 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:
- Establish a shared clinical database, a repository of biospecimen samples, and a central database for the storage of all genetic data in SP-CERN.
- 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.
- 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
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A, Spastic Paraplegia 4, Spastic Paraplegia 5A
- Medical subject headings
- Spastic Paraplegia, Hereditary, Motor Neuron Disease, Spastic Paraplegia Type 4, Neuromuscular Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN.
Measured: 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.
Measured: 2 years
Test key elements in pilot projects
Measured: 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.
Measured: 2 years
Secondary outcomes (2)
Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.
Measured: 2 years
Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2024
- Study start4 Jun 2024
- Primary completion4 Jun 2026 (estimated)
- Study completion4 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Spastic ParaplegiaStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- 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
- Responsible party
- Principal investigator, Darius Ebrahimi-Fakhari, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06553976
- Sponsor's protocol ID
- P00047458
- Acronym
- SP-CERN
- Status last verified
- Mar 2026
- First submitted
- 12 Aug 2024
- Last updated
- 18 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot
- ClinicalTrials.gov ID
- NCT06553976
- Acronym / sponsor ID
- SP-CERN / P00047458
- Conditions
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A, Spastic Paraplegia 4, Spastic Paraplegia 5A
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- 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
- Study start
- 4 Jun 2024 (actual)
- Primary completion
- 4 Jun 2026 (estimated)
- Study completion
- 4 Jun 2027 (estimated)
- First posted
- 14 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Establish a shared clinical database, a repository of biospecimen samples, and a central database for the storage of all genetic data in SP-CERN.
- 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.
- 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- 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).
Key exclusion criteria (1 listed)
- Not having such a diagnosis and/or not being related to such individual.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
2 secondary outcomes
Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.
Time frame: 2 years
Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2026.
- Spastic Paraplegia - Centers of Excellence Research Network WebsiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Spastic Paraplegia and Primary Lateral Sclerosis, run by Boston Children's Hospital at 11 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Darius Ebrahimi-Fakhari, MD, PhD. (617-355-0097, hsp.research@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Mar 2026.