An observational study in Hereditary Spastic Paraplegia, Neurodegenerative Diseases and Pediatric Disorder, sponsored by Boston Children's Hospital. Recruiting at 1 site in United States. Open to participants aged 1 Month to 30 Years. Per ClinicalTrials.gov, last updated 2026-03-18.
Sponsored by Boston Children's Hospital · Observational
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.
The hereditary spastic paraplegias (HSP) are a group of more than 80 inherited neurogenetic 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.
The clinical diagnosis of HSP does not suggest anything about its molecular cause, with a wide range of outcomes dependent on the gene affected. The recent advances in HSP genetics speak to the importance of the field and the need for a more detailed study. Moreover, the relations between clinical features and genetic mechanisms are not well understood.
Given the influence of genetics on the likelihood of developing HSP as well as the complexity and diversity of the phenotypes, progress in HSP genetics will require efforts looking at relatively large samples of the HSP population. By bringing together very detailed phenotype information with high resolution DNA analyses, and using new approaches for comparing sequence information in candidate genes or looking for phenotype/genotype associations via genome-wide scanning, the investigators aim to be a leader in this emerging area of HSP research.
The aims of this study include:
50 studies on the registry are indexed under Spastic Paraplegia, Hereditary; 19 are open to participants now.
This study's planned enrollment of 200 is above the median of 100 across 25 observational studies indexed under Spastic Paraplegia, Hereditary.
Browse Spastic Paraplegia, Hereditary studies →Boston Children's Hospital is the lead sponsor of 608 studies on the registry; 147 are open to participants now.
Of its 32 completed or terminated interventional studies of FDA-regulated products, 19 (59%) have results posted.
Counted across the registry records on this site, refreshed daily.
Male or female, under 30 years, with suspected HSP
Inclusion Criteria:
Identify Genetic Findings
Identifying genetic variants in patients with progressive spastic paraplegia
Time frame: An average of 1 year
Correlating Genetic Findings with HSP Phenotypes
Comparing phenotype/genotype associations via genome wide scanning
Time frame: An average of 1 year
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Spastic Paraplegia, Hereditary →