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Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Boston Children's Hospital · NCT04712812

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Up to age 30 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
700
US sites recruiting
1
Study start
April 27, 2020
Record last updated
March 18, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study 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: Hereditary Spastic Paraplegia; SPG47; SPG50; SPG51; SPG52; AP4-related Hereditary Spastic Paraplegia; Early Onset Hereditary Spastic Paraplegia; SPG4; SPG3A; SPG15; SPG11

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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

Recruiting US locations

  • Boston Children's Hospital

    Boston, MA 02115

    Site contact: Darius Ebrahimi-Fakhari, MD, PhD · 617-355-6388 · Darius.Ebrahimi-Fakhari@childrens.harvard.edu

Study contacts (from the official record)

  • Darius Ebrahimi-Fakhari, MD, PhD · 617-355-6388 · hsp.research@childrens.harvard.edu
  • Nicole Battaglia, BS · hsp.research@childrens.harvard.edu
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Registry and Natural History Study for Early Onset Hereditary… (NCT04712812) | Bored Studies