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Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2026-03-18

No results posted yet for this study

Summary

The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide.

In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.

Conditions

Sponsors & Collaborators

Principal Investigators

  • Darius Ebrahimi-Fakhari, MD, PhD · Boston Children's Hospital

Eligibility

Min Age
1 Month
Max Age
30 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-04-25
Primary Completion
2027-04-29
Completion
2027-04-29

Countries

  • United States

Study Locations

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Entities

Diseases
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 NCT05354622 on ClinicalTrials.gov