Genetic analysis of hereditary spastic paraplegia
Official title: Investigating the Genetic Basis of Hereditary Spastic Paraplegia
Run by Boston Children's Hospital · NCT05354622 · Data updated 2026-11-12
This study is trying to find out the genetic causes of hereditary spastic paraplegia to help improve diagnosis and treatment for people living with this condition.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Month to 30 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | April 25, 2022 |
| Main results expected | April 29, 2027 |
| Study ends | April 29, 2027 |
| Registry record updated | March 18, 2026 |
| Trial ID | NCT05354622 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a clinical diagnosis of progressive spasticity.
✕Probably not a fit
Patients without a clinical diagnosis of progressive spasticity may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The HSP Sequencing Initiative aims to enhance understanding of the genetic factors involved in hereditary spastic paraplegia (HSP) and related neurodegenerative disorders. This observational study will collect detailed phenotype information and perform high-resolution DNA analyses to identify genetic causes of HSP. By studying a large sample of the HSP population, the initiative seeks to establish connections between clinical features and genetic mechanisms, ultimately leading to improved diagnostic and treatment strategies for affected individuals.
Why it matters
Potential benefit: If successful, this initiative could lead to better-targeted treatments and earlier diagnoses for patients with hereditary spastic paraplegia.
How similar studies have gone: Other studies have shown promise in genetic research related to hereditary spastic paraplegia, indicating potential for success in this initiative.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical diagnosis of progressive spasticity
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Principal investigator: Darius Ebrahimi-Fakhari, MD, PhD — Boston Children's Hospital
- Study coordinator: Darius Ebrahimi-Fakhari, MD, PhD
- Email: hsp.research@childrens.harvard.edu
- Phone: 617-355-8356
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.