Movement Disorders Clinical Trial
Official title:
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
NCT number | NCT05354622 |
Other study ID # | P00039630 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | April 25, 2022 |
Est. completion date | April 29, 2027 |
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.
Status | Recruiting |
Enrollment | 200 |
Est. completion date | April 29, 2027 |
Est. primary completion date | April 29, 2027 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 1 Month to 30 Years |
Eligibility | Inclusion Criteria: - Clinical diagnosis of progressive spasticity |
Country | Name | City | State |
---|---|---|---|
United States | Boston Children's Hospital | Boston | Massachusetts |
Lead Sponsor | Collaborator |
---|---|
Boston Children's Hospital | Boston Children's Hospital - Children's Rare Disease Cohorts Initiative |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Identify Genetic Findings | Identifying genetic variants in patients with progressive spastic paraplegia | An average of 1 year | |
Primary | Correlating Genetic Findings with HSP Phenotypes | Comparing phenotype/genotype associations via genome wide scanning | An average of 1 year |
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