Genetic analysis of hereditary spastic paraplegia
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 1 Month to 30 Years |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT05354622 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals with a clinical diagnosis of progressive spasticity.
Not a fit: Patients without a clinical diagnosis of progressive spasticity may not benefit from this study.
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 performed: Other studies have shown promise in genetic research related to hereditary spastic paraplegia, indicating potential for success in this initiative.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical diagnosis of progressive spasticity
Where this trial is running
Boston, Massachusetts
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.