Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome

Fumihiko Urano; Bess A Marshall; Stacy Hurst; Amy Robichaux-Viehoever; Saumel Ahmadi; Tamara Hershey; Gregory Van Stavern; Paulina Cruz Bravo; Jennifer Powers Carson; John Pesko; Kelly Fox; Nathalie Erpelding; Camille L Bedrosian

doi:10.1172/JCI198519

Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome

J Clin Invest. 2026 May 15;136(10):e198519. doi: 10.1172/JCI198519.

Authors

Affiliations

¹ Department of Medicine.
² Department of Pathology & Immunology.
³ Departments of Pediatrics and Cell Biology & Physiology.
⁴ Department of Neurology.
⁵ Departments of Psychiatry and Radiology, and.
⁶ Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA.
⁷ Amylyx Pharmaceuticals, Inc., Cambridge, Massachusetts, USA.

Abstract

PB&TURSO was associated with improved or stabilized pancreatic function, vision, and overall symptom burden in individuals with Wolfram syndrome, a rare and progressive degenerative disease.

Keywords: Cell stress; Clinical trials; Endocrinology; Genetic diseases; Genetics.

Publication types

Clinical Trial, Phase II

MeSH terms

Adolescent
Adult
Drug Combinations
Female
Humans
Male
Middle Aged
Phenylbutyrates* / administration & dosage
Phenylbutyrates* / adverse effects
Phenylbutyrates* / therapeutic use
Taurochenodeoxycholic Acid
Wolfram Syndrome* / drug therapy
Wolfram Syndrome* / physiopathology

Substances

Phenylbutyrates
4-phenylbutyric acid
sodium phenylbutyrate and taurursodiol
Drug Combinations
Taurochenodeoxycholic Acid

Abstract

Publication types

MeSH terms

Substances

Grants and funding