Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) (NCT05354622)
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: Boston Children's Hospital — Boston, Massachusetts
Age range: 1 Month to 30 Years
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- Boston Children's Hospital — Boston, Massachusetts
📞 Contact the Study Coordinator
Phone: (617) 355-8356
Email: hsp.research@childrens.harvard.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Hereditary Spastic Paraplegia
- Neuromodulation to Enhance Motor Function in HSP — Lexington, Kentucky
- Spastic Paraplegia - Centers of Excellence Research Network — Miami, Florida
- Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia — Boston, Massachusetts
Explore by condition: All Hereditary Spastic Paraplegia clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.