Registry for Early Onset Hereditary Spastic Paraplegia
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
This study is collecting information and samples from people under 30 with early onset hereditary spastic paraplegia to help understand the condition better and find new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 700 (estimated) |
| Ages | N/A to 30 Years |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT04712812 on ClinicalTrials.gov |
What this trial studies
This study gathers clinical data and biological samples from patients under 30 years old who have early onset hereditary spastic paraplegia (HSP) or are related to someone with the condition. The goal is to document the clinical presentation and natural history of HSP, facilitating early diagnosis and better family counseling. By collecting samples, the study aims to identify biomarkers and potential therapeutic targets for future treatments. The data will be stored securely and made available to researchers worldwide to advance understanding of HSP.
Who should consider this trial
Good fit: Ideal candidates are individuals under 30 years old with early onset symptoms of hereditary spastic paraplegia and confirmed genetic variants.
Not a fit: Patients without a diagnosis of hereditary spastic paraplegia or those not related to an affected individual may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with hereditary spastic paraplegia.
How similar studies have performed: While this approach is focused on registry and natural history, similar studies have shown promise in advancing understanding and treatment of genetic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Onset of hereditary spastic paraplegia symptoms before the age of 18 years * Under the age of 30 years old * Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable). Exclusion Criteria: * Not having such a diagnosis and/or not being related to such individual
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Study coordinator: Darius Ebrahimi-Fakhari, MD, PhD
- Email: hsp.research@childrens.harvard.edu
- Phone: 617-355-6388
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.