Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. There is no disease-modifying treatment currently available. Therefore, standardized, validated outcome measures to facilitate clinical trials are urgently needed. We performed a scoping review of outcome meas...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-09-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/9/1756 |
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| author | Sue-Faye Siow Dennis Yeow Laura I. Rudaks Fangzhi Jia Gautam Wali Carolyn M. Sue Kishore R. Kumar |
| author_facet | Sue-Faye Siow Dennis Yeow Laura I. Rudaks Fangzhi Jia Gautam Wali Carolyn M. Sue Kishore R. Kumar |
| author_sort | Sue-Faye Siow |
| collection | DOAJ |
| description | Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. There is no disease-modifying treatment currently available. Therefore, standardized, validated outcome measures to facilitate clinical trials are urgently needed. We performed a scoping review of outcome measures and biomarkers for HSP to provide recommendations for future studies and identify areas for further research. We searched Embase, Medline, Scopus, Web of Science, and the Central Cochrane database. Seventy studies met the inclusion criteria, and eighty-three outcome measures were identified. The Spastic Paraplegia Rating Scale (SPRS) was the most widely used (27 studies), followed by the modified Ashworth Scale (18 studies) and magnetic resonance imaging (17 studies). Patient-reported outcome measures (PROMs) were infrequently used to assess treatment outcomes (28% of interventional studies). Diffusion tensor imaging, gait analysis and neurofilament light chain levels were the most promising biomarkers in terms of being able to differentiate patients from controls and correlate with clinical disease severity. Overall, we found variability and inconsistencies in use of outcome measures with a paucity of longitudinal data. We highlight the need for (1) a standardized set of core outcome measures, (2) validation of existing biomarkers, and (3) inclusion of PROMs in HSP clinical trials. |
| first_indexed | 2024-03-10T22:42:57Z |
| format | Article |
| id | doaj.art-01eb20aafcb3495a82b1494d61592a60 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T22:42:57Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-01eb20aafcb3495a82b1494d61592a602023-11-19T10:53:16ZengMDPI AGGenes2073-44252023-09-01149175610.3390/genes14091756Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping ReviewSue-Faye Siow0Dennis Yeow1Laura I. Rudaks2Fangzhi Jia3Gautam Wali4Carolyn M. Sue5Kishore R. Kumar6Sydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaSydney Medical School, University of Sydney, Camperdown 2050, AustraliaHereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. There is no disease-modifying treatment currently available. Therefore, standardized, validated outcome measures to facilitate clinical trials are urgently needed. We performed a scoping review of outcome measures and biomarkers for HSP to provide recommendations for future studies and identify areas for further research. We searched Embase, Medline, Scopus, Web of Science, and the Central Cochrane database. Seventy studies met the inclusion criteria, and eighty-three outcome measures were identified. The Spastic Paraplegia Rating Scale (SPRS) was the most widely used (27 studies), followed by the modified Ashworth Scale (18 studies) and magnetic resonance imaging (17 studies). Patient-reported outcome measures (PROMs) were infrequently used to assess treatment outcomes (28% of interventional studies). Diffusion tensor imaging, gait analysis and neurofilament light chain levels were the most promising biomarkers in terms of being able to differentiate patients from controls and correlate with clinical disease severity. Overall, we found variability and inconsistencies in use of outcome measures with a paucity of longitudinal data. We highlight the need for (1) a standardized set of core outcome measures, (2) validation of existing biomarkers, and (3) inclusion of PROMs in HSP clinical trials.https://www.mdpi.com/2073-4425/14/9/1756hereditary spastic paraplegiaoutcome measuresbiomarkersclinical trialsscoping review |
| spellingShingle | Sue-Faye Siow Dennis Yeow Laura I. Rudaks Fangzhi Jia Gautam Wali Carolyn M. Sue Kishore R. Kumar Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review Genes hereditary spastic paraplegia outcome measures biomarkers clinical trials scoping review |
| title | Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review |
| title_full | Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review |
| title_fullStr | Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review |
| title_full_unstemmed | Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review |
| title_short | Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review |
| title_sort | outcome measures and biomarkers for clinical trials in hereditary spastic paraplegia a scoping review |
| topic | hereditary spastic paraplegia outcome measures biomarkers clinical trials scoping review |
| url | https://www.mdpi.com/2073-4425/14/9/1756 |
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