Paving a way to treat spastic paraplegia 50
Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. There are no effective treatments for SPG50 or any other type of SPG, and current treatments are limited to symptomatic management. In this issue of the JCI, Chen et al. provide promising...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
American Society for Clinical Investigation
2023-05-01
|
| Series: | The Journal of Clinical Investigation |
| Online Access: | https://doi.org/10.1172/JCI170226 |
| _version_ | 1797634436951441408 |
|---|---|
| author | Jonathan R. Brent Han-Xiang Deng |
| author_facet | Jonathan R. Brent Han-Xiang Deng |
| author_sort | Jonathan R. Brent |
| collection | DOAJ |
| description | Spastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. There are no effective treatments for SPG50 or any other type of SPG, and current treatments are limited to symptomatic management. In this issue of the JCI, Chen et al. provide promising data from preclinical studies that evaluated the efficacy and safety profiles of an AAV-mediated AP4M1 gene replacement therapy for SPG50. AAV/AP4M1 gene replacement partly rescued functional defects in SPG50 cellular and mouse models, with acceptable safety profiles in rodents and monkeys. This work represents a substantial advancement in therapeutic development of SPG50 treatments, establishing the criteria for taking AAV9/AP4M1 gene therapy to clinical trials. |
| first_indexed | 2024-03-11T12:08:51Z |
| format | Article |
| id | doaj.art-710519a5dd46463ca26544ec1ed98a7b |
| institution | Directory Open Access Journal |
| issn | 1558-8238 |
| language | English |
| last_indexed | 2024-03-11T12:08:51Z |
| publishDate | 2023-05-01 |
| publisher | American Society for Clinical Investigation |
| record_format | Article |
| series | The Journal of Clinical Investigation |
| spelling | doaj.art-710519a5dd46463ca26544ec1ed98a7b2023-11-07T16:20:20ZengAmerican Society for Clinical InvestigationThe Journal of Clinical Investigation1558-82382023-05-0113310Paving a way to treat spastic paraplegia 50Jonathan R. BrentHan-Xiang DengSpastic paraplegia 50 (SPG50) is a rare neurodegenerative disease caused by loss-of-function mutations in AP4M1. There are no effective treatments for SPG50 or any other type of SPG, and current treatments are limited to symptomatic management. In this issue of the JCI, Chen et al. provide promising data from preclinical studies that evaluated the efficacy and safety profiles of an AAV-mediated AP4M1 gene replacement therapy for SPG50. AAV/AP4M1 gene replacement partly rescued functional defects in SPG50 cellular and mouse models, with acceptable safety profiles in rodents and monkeys. This work represents a substantial advancement in therapeutic development of SPG50 treatments, establishing the criteria for taking AAV9/AP4M1 gene therapy to clinical trials.https://doi.org/10.1172/JCI170226 |
| spellingShingle | Jonathan R. Brent Han-Xiang Deng Paving a way to treat spastic paraplegia 50 The Journal of Clinical Investigation |
| title | Paving a way to treat spastic paraplegia 50 |
| title_full | Paving a way to treat spastic paraplegia 50 |
| title_fullStr | Paving a way to treat spastic paraplegia 50 |
| title_full_unstemmed | Paving a way to treat spastic paraplegia 50 |
| title_short | Paving a way to treat spastic paraplegia 50 |
| title_sort | paving a way to treat spastic paraplegia 50 |
| url | https://doi.org/10.1172/JCI170226 |
| work_keys_str_mv | AT jonathanrbrent pavingawaytotreatspasticparaplegia50 AT hanxiangdeng pavingawaytotreatspasticparaplegia50 |