Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
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|ClinicalTrials.gov Identifier: NCT05354622|
Recruitment Status : Recruiting
First Posted : April 29, 2022
Last Update Posted : March 13, 2023
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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.
|Condition or disease|
|Hereditary Spastic Paraplegia Neurodegenerative Diseases Pediatric Disorder Spasticity, Muscle Motor Neuron Disease Movement Disorders|
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 :||Observational [Patient Registry]|
|Estimated Enrollment :||200 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||Investigating the Genetic Basis of Hereditary Spastic Paraplegia|
|Actual Study Start Date :||April 25, 2022|
|Estimated Primary Completion Date :||April 29, 2027|
|Estimated Study Completion Date :||April 29, 2027|
- Identify Genetic Findings [ Time Frame: An average of 1 year ]Identifying genetic variants in patients with progressive spastic paraplegia
- Correlating Genetic Findings with HSP Phenotypes [ Time Frame: An average of 1 year ]Comparing phenotype/genotype associations via genome wide scanning
Biospecimen Retention: Samples With DNA
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|Ages Eligible for Study:||1 Month to 30 Years (Child, Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- Clinical diagnosis of progressive spasticity
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05354622
|Contact: Darius Ebrahimi-Fakhari, MD, PhD||617-355-8356||Darius.Ebrahimi-Fakhari@childrens.harvard.edu|
|Contact: Amy Tam, BSfirstname.lastname@example.org|
|United States, Massachusetts|
|Boston Children's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Amy Tam 617-355-2698 email@example.com|
|Principal Investigator:||Darius Ebrahimi-Fakhari, MD, PhD||Boston Children's Hospital|
|Responsible Party:||Darius Ebrahimi-Fakhari, Principal Investigator, Boston Children's Hospital|
|Other Study ID Numbers:||
|First Posted:||April 29, 2022 Key Record Dates|
|Last Update Posted:||March 13, 2023|
|Last Verified:||March 2023|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Hereditary Spastic Paraplegia
Complex hereditary spastic paraplegia
Early Onset hereditary spastic paraplegia
Adaptor protein complex 4
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Spastic Paraplegia, Hereditary
Nervous System Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Peripheral Nervous System Diseases
Genetic Diseases, Inborn