Investigating the Genetic Basis of Hereditary Spastic Paraplegia

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 1 month
Maximum Age: 30
Healthy Volunteers: f
View:

• Clinical diagnosis of progressive spasticity

Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Contact Information
Primary
Darius Ebrahimi-Fakhari, MD, PhD
hsp.research@childrens.harvard.edu
617-355-8356
Backup
Amy Tam, BS
hsp.research@childrens.harvard.edu
617-355-2698
Time Frame
Start Date: 2022-04-25
Estimated Completion Date: 2027-04-29
Participants
Target number of participants: 200
Sponsors
Collaborators: Boston Children's Hospital - Children's Rare Disease Cohorts Initiative
Leads: Boston Children's Hospital

This content was sourced from clinicaltrials.gov