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ACS Chem Biol2024;19(11):2372-2382.November 15, 2024Journal Article

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.

Lara N Gechijian1, Giovanni Muncipinto2, T Justin Rettenmaier1, Matthew T Labenski1, Victor Rusu3, Lea Rosskamp1, Leslie Conway1, Daniel van Kalken1, Liam Gross4, Gianna Iantosca5, William Crotty6, Robert Mathis1, Hyejin Park1, Benjamin Rabin7, Christina Westgate8, Matthew Lyons9, Chloe Deshusses10, Nicholas Brandon6, Dean G Brown1, Heather S Blanchette1, Nicholas Pullen11, Lyn H Jones12, Joel C Barrish13
1Jnana Therapeutics, Boston, Massachusetts 02210, United States.
2Third Harmonic Bio, Cambridge, Massachusetts 02139, United States.
3Apple Tree Partners, New York, New York 10169, United States.
4Oregon State University, Portland, Oregon 97331, United States.
5Atavistik Bio, Cambridge, Massachusetts 02140, United States.
6Neumora Tx, Watertown, Massachusetts 02472, United States.
7Brigham and Women's Hospital, Boston, Massachusetts 02115, United States.
8DG Medicines, Boston, Massachusetts 02115, United States.
9University of California, San Francisco, California 90095, United States.
10University of North Carolina, Chapel Hill, North Carolina 27599, United States.
11ArtBio, Cambridge, Massachusetts 02139, United States.
12Center for Protein Degradation, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts 02215, United States.
13RA Capital Ventures, Boston, Massachusetts 02116, United States.
PubMed PMC DOI PDF

Abstract

Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired by the transformational therapeutic impact of small molecule "correctors" for the treatment of cystic fibrosis, which bind to mutated versions of the CFTR ion cha…

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