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Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

NCT04712812 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 700

Last updated 2026-03-18

No results posted yet for this study

Summary

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

Sponsors & Collaborators

Eligibility

Max Age
30 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-04-27
Primary Completion
2030-12-31
Completion
2030-12-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04712812 on ClinicalTrials.gov