Clinical trial Recruiting at 1 site Observational Ages Any age to 30

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 typeObservational
AgesAny age to 30 Years
SexAll
Enrollment700 (estimated)
SponsorBoston Children's Hospital
Academic / other
Locations1 site (Boston, Massachusetts)
StatusRecruiting
StartedApril 27, 2020
Main results expectedDecember 31, 2030
Study endsDecember 31, 2030
Registry record updatedMarch 18, 2026
Trial IDNCT04712812 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

  • Boston Children's Hospital
    Boston, Massachusetts, United States
    Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.