Preclinical efficacy of a gene therapy for CHKB-mediated muscular dystrophy
Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, Jennifer Devitt, Laura Hagerty, Jesse Damsker, Eric P Hoffman, Christopher R McMaster · 2026
Read Preclinical efficacy of a gene therapy for CHKB-mediated muscular dystrophy by Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, Jennifer Devitt, Laura Hagerty, Jesse Damsker, Eric P Hoffman, Christopher R McMaster (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13263696.txt.
Description
Mahtab Tavasoli and colleagues tested in 2026 a gene therapy for a rare muscular dystrophy caused by loss of the CHKB gene. The gene builds an enzyme in the pathway for a major membrane fat, and its loss weakens muscle from infancy. Their mouse model mirrors the human disease, with shrunken fibers, giant mitochondria, and fatty muscle.
A single injection of a virus carrying the human gene went to knockout mice at three dose levels. Every dose restored the missing enzyme's activity in muscle. Treated mice matched healthy animals in body and muscle weight, cell health, fat balance, and walking capacity. The authors describe the treated animals as indistinguishable from wild type on their measures. They propose the approach as a candidate treatment for the fewer than fifty known patients worldwide.
Catalog record
| CREATOR | Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, Jennifer Devitt, Laura Hagerty, Jesse Damsker, Eric P Hoffman, Christopher R McMaster |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 53 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |