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Recruiting No phase listed Observational Accepts healthy volunteers

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

ClinicalTrials.gov ID: NCT04712812

Public ClinicalTrials.gov record NCT04712812. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Oct 21, 2026, 8:18 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

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

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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 identification

NCT ID
NCT04712812
Recruitment status
Recruiting
Study type
Observational
Phase
Not listed
Lead sponsor
Boston Children's Hospital
Other
Enrollment
700 participants

Conditions and interventions

Eligibility (public fields only)

Age range
Up to 30 Years
Sex
All
Healthy volunteers
Accepts healthy volunteers

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Apr 27, 2020 (Actual)
Primary completion
Dec 31, 2030 (Estimated)
Completion
Dec 31, 2030 (Estimated)
Last update posted
Mar 18, 2026

2020 – 2030

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
Boston Children's Hospital Boston Massachusetts 02115 Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT04712812, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Mar 18, 2026 · Synced Oct 21, 2026

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Open the official record

The complete public registry record, listed eligibility criteria, and available contact information for NCT04712812 live on ClinicalTrials.gov.

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