- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05354622
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
Investigating the Genetic Basis of Hereditary Spastic Paraplegia
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.
Study Overview
Status
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:
- To identify genetic findings (single nucleotide changes or copy number variants) in patients with progressive spastic paraplegia and related disorders.
- To correlate molecular findings with HSP phenotypes.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Darius Ebrahimi-Fakhari, MD, PhD
- Phone Number: 617-355-8356
- Email: hsp.research@childrens.harvard.edu
Study Contact Backup
- Name: Amy Tam, BS
- Phone Number: 617-355-2698
- Email: hsp.research@childrens.harvard.edu
Study Locations
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Recruiting
- Boston Children's Hospital
-
Contact:
- Amy Tam
- Phone Number: 617-355-2698
- Email: amy.tam@childrens.harvard.edu
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Clinical diagnosis of progressive spasticity
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Identify Genetic Findings
Time Frame: An average of 1 year
|
Identifying genetic variants in patients with progressive spastic paraplegia
|
An average of 1 year
|
Correlating Genetic Findings with HSP Phenotypes
Time Frame: An average of 1 year
|
Comparing phenotype/genotype associations via genome wide scanning
|
An average of 1 year
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Darius Ebrahimi-Fakhari, MD, PhD, Boston Children's Hospital
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
- Spasticity
- Genetic Disease
- Neurodegenerative disease
- Muscle Spasticity
- Musculoskeletal Disease
- Movement disorder
- Neurodevelopmental disorders
- Hereditary Spastic Paraplegia
- Neurogenetic disorder
- SPG11
- SPG4
- SPG3a
- SPG15
- SPG26
- SPG47
- SPG50
- SPG51
- SPG52
- Complex hereditary spastic paraplegia
- Early Onset hereditary spastic paraplegia
- Adaptor protein complex 4
Additional Relevant MeSH Terms
- Metabolic Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Peripheral Nervous System Diseases
- Neuromuscular Manifestations
- Spinal Cord Diseases
- TDP-43 Proteinopathies
- Proteostasis Deficiencies
- Heredodegenerative Disorders, Nervous System
- Nervous System Malformations
- Paralysis
- Muscle Hypertonia
- Polyneuropathies
- Hereditary Sensory and Motor Neuropathy
- Motor Neuron Disease
- Amyotrophic Lateral Sclerosis
- Neurodegenerative Diseases
- Muscle Spasticity
- Movement Disorders
- Paraplegia
- Spastic Paraplegia, Hereditary
Other Study ID Numbers
- P00039630
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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