Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
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| ClinicalTrials.gov Identifier: NCT05354622 |
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Recruitment Status :
Recruiting
First Posted : April 29, 2022
Last Update Posted : March 13, 2023
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| Tracking Information | |||||||||
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| First Submitted Date | April 26, 2022 | ||||||||
| First Posted Date | April 29, 2022 | ||||||||
| Last Update Posted Date | March 13, 2023 | ||||||||
| Actual Study Start Date | April 25, 2022 | ||||||||
| Estimated Primary Completion Date | April 29, 2027 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
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| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | |||||||||
| Current Secondary Outcome Measures | Not Provided | ||||||||
| Original Secondary Outcome Measures | Not Provided | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) | ||||||||
| Official Title | Investigating the Genetic Basis of Hereditary Spastic Paraplegia | ||||||||
| Brief 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. |
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| 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:
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| Study Type | Observational [Patient Registry] | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
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| Target Follow-Up Duration | 5 Years | ||||||||
| Biospecimen | Retention: Samples With DNA Description: Blood sample or Buccal Swab
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Male or female, under 30 years, with suspected HSP | ||||||||
| Condition |
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| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | Not Provided | ||||||||
| Publications * | Not Provided | ||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
200 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | April 29, 2027 | ||||||||
| Estimated Primary Completion Date | April 29, 2027 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria | Inclusion Criteria:
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| Sex/Gender |
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| Ages | 1 Month to 30 Years (Child, Adult) | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts |
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| Listed Location Countries | United States | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT05354622 | ||||||||
| Other Study ID Numbers | P00039630 | ||||||||
| Has Data Monitoring Committee | Not Provided | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement | Not Provided | ||||||||
| Current Responsible Party | Darius Ebrahimi-Fakhari, Boston Children's Hospital | ||||||||
| Original Responsible Party | Same as current | ||||||||
| Current Study Sponsor | Boston Children's Hospital | ||||||||
| Original Study Sponsor | Same as current | ||||||||
| Collaborators | Boston Children's Hospital - Children's Rare Disease Cohorts Initiative | ||||||||
| Investigators |
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| PRS Account | Boston Children's Hospital | ||||||||
| Verification Date | March 2023 | ||||||||