NCT05354622 Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
| NCT ID | NCT05354622 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Hereditary Spastic Paraplegia |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2022-04-25 |
| Primary Completion | 2027-04-29 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2022-04-25 with a primary completion date of 2027-04-29.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
Inclusion Criteria: * Clinical diagnosis of progressive spasticity
Contact & Investigator
Darius Ebrahimi-Fakhari, MD, PhD
PRINCIPAL INVESTIGATOR
Boston Children's Hospital
Frequently Asked Questions
Who can join the NCT05354622 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 30 Years, studying Hereditary Spastic Paraplegia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05354622 currently recruiting?
Yes, NCT05354622 is actively recruiting participants. Contact the research team at hsp.research@childrens.harvard.edu for enrollment information.
Where is the NCT05354622 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT05354622 clinical trial?
NCT05354622 is sponsored by Boston Children's Hospital. The principal investigator is Darius Ebrahimi-Fakhari, MD, PhD at Boston Children's Hospital. The trial plans to enroll 200 participants.