Current Environment: Development

Warning

Winter Weather

Snow is in the forecast. Consider switching to a virtual visit to receive care from home. Learn more>>

Dev

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.

Conditions

Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders

Recruitment Status

RECRUITING

Detailed Description

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: 1. To identify genetic findings (single nucleotide changes or copy number variants) in patients with progressive spastic paraplegia and related disorders. 2. To correlate molecular findings with HSP phenotypes.

Eligibility Criteria

Inclusion Criteria:

* Clinical diagnosis of progressive spasticity

Gender

ALL

Min Age

1 Month

Max Age

30 Years

Download Date

2024-12-11

Principal Investigator

Darius Ebrahimi-Fakhari, MD, PhD

This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.

Primary Contact Information

Catherine Jordan, BA, MA
Catherine.Jordan@childrens.harvard.edu

This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.

For more information on this trial, visit clinicaltrials.gov.

Contact

For more information and to contact the study team:

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) NCT05354622 Catherine Jordan, BA, MA Catherine.Jordan@childrens.harvard.edu