Registry for Early Onset Hereditary Spastic Paraplegia
Official title: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
Run by Boston Children's Hospital · NCT04712812 · Data updated 2026-11-12
This study is collecting information and samples from people under 30 with early onset hereditary spastic paraplegia to help understand the condition better and find new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 30 Years |
| Sex | All |
| Enrollment | 700 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | April 27, 2020 |
| Main results expected | December 31, 2030 |
| Study ends | December 31, 2030 |
| Registry record updated | March 18, 2026 |
| Trial ID | NCT04712812 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals under 30 years old with early onset symptoms of hereditary spastic paraplegia and confirmed genetic variants.
✕Probably not a fit
Patients without a diagnosis of hereditary spastic paraplegia or those not related to an affected individual may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study gathers clinical data and biological samples from patients under 30 years old who have early onset hereditary spastic paraplegia (HSP) or are related to someone with the condition. The goal is to document the clinical presentation and natural history of HSP, facilitating early diagnosis and better family counseling. By collecting samples, the study aims to identify biomarkers and potential therapeutic targets for future treatments. The data will be stored securely and made available to researchers worldwide to advance understanding of HSP.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with hereditary spastic paraplegia.
How similar studies have gone: While this approach is focused on registry and natural history, similar studies have shown promise in advancing understanding and treatment of genetic disorders.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
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Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Study coordinator: Darius Ebrahimi-Fakhari, MD, PhD
- Email: hsp.research@childrens.harvard.edu
- Phone: 617-355-6388
Similar studies
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This trial will test whether noninvasive transcutaneous spinal cord stimulation can improve walking and reduce muscle stiffness in adults with hereditary spastic paraplegia.
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.