Home › Hereditary Spastic Paraplegia › NCT05354622
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
Who can join
1 Month – 30 Years · All sexes
Full eligibility criteria
Inclusion Criteria: * Clinical diagnosis of progressive spasticity
About the study
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.
Sponsor: Boston Children's Hospital · Participants: 200 · Started: Apr 25, 2022
Contact the study team
- Darius Ebrahimi-Fakhari, MD, PhD · Phone: 617-355-8356
- Amy Tam, BS · Phone: 617-355-2698
Official record on ClinicalTrials.gov — NCT05354622
Locations in the U.S.
| Massachusetts | Boston Children's Hospital, Boston |
Conditions
- Hereditary Spastic Paraplegia
- Degenerative Nerve Diseases
- Muscle Spasticity
- ALS and Motor Neuron Disease
- Movement Disorders
- Genetic Disorders
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.