Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

March 16, 2026 updated by: Darius Ebrahimi-Fakhari, Boston Children's Hospital

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The hereditary spastic paraplegias (HSP) are a group of more than 80 neurodegenerative diseases that lead to progressive neurological decline. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability.

We aim to delineate the core clinical, imaging, and molecular features of pediatric onset hereditary spastic paraplegia. This registry and natural history study will facilitate an early diagnosis, enables counseling and anticipatory guidance of affected families and will help define clinically meaningful endpoints for future interventional trials. Samples will be collected for the purpose of molecular and cellular investigation that will help identify biomarkers and novel targets for therapy. The samples and clinical information will be housed in the Translational Neuroscience Center and a secure REDcap database, respectively; both located in Boston Children's Hospital (BCH), but will be available to investigators around the world after approval.

The objectives of this protocol are to (1) To systematically document the clinical presentation and natural history of early-onset forms of HSP and (2) To facilitate an early diagnosis, enable counseling and anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits.

Specifically, the aims are to:

  1. Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
  2. Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
  3. Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
  4. Create a registry that allows for re-identification and re-contact of participants by appropriate investigators

Study Type

Observational

Enrollment (Estimated)

700

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 month and older (Child, Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).

Description

Inclusion Criteria:

  • Onset of hereditary spastic paraplegia symptoms before the age of 18 years
  • Under the age of 30 years old
  • Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable).

Exclusion Criteria:

  • Not having such a diagnosis and/or not being related to such individual

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Proband with Hereditary Spastic Paraplegia
The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Establishment of disease spectrum
Time Frame: Through study completion, an average of 1 year
Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
Through study completion, an average of 1 year
Establishment of longitudinal data
Time Frame: Through study completion, an average of 1 year
Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
Through study completion, an average of 1 year
Creation of biorepository
Time Frame: Through study completion, an average of 1 year
Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
Through study completion, an average of 1 year
Creation of patient registry
Time Frame: Through study completion, an average of 1 year
Create a registry that allows for re-identification and re-contact of participants by appropriate investigators
Through study completion, an average of 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Collaborators

CureAP4 Foundation

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 27, 2020

Primary Completion (Estimated)

December 31, 2030

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

January 12, 2021

First Submitted That Met QC Criteria

January 14, 2021

First Posted (Actual)

January 15, 2021

Study Record Updates

Last Update Posted (Actual)

March 18, 2026

Last Update Submitted That Met QC Criteria

March 16, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • P00033016

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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