Actively Recruiting

Age: 0 - 30Years
All Genders
Healthy Volunteers
NCT04712812

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Led by Boston Children's Hospital · Updated on 2026-03-18

700

Participants Needed

1

Research Sites

557 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Who Can Participate

Age: 0 - 30Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • 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 or be a relative of an individual with a confirmed diagnosis
Not Eligible

You will not qualify if you...

  • Not having a diagnosis of hereditary spastic paraplegia and/or not being related to an individual with such diagnosis

AI-Screening

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Trial Site Locations

Total: 1 location

1

Boston Children's Hospital

Boston, Massachusetts, United States, 02115

Actively Recruiting

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Research Team

D

Darius Ebrahimi-Fakhari, MD, PhD

CONTACT

N

Nicole Battaglia, BS

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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