P018: Safety and tolerability of chenodeoxycholic acid in pediatric patients with cerebrotendinous xanthomatosis (RESTORE): An open-label phase 3 study
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and toxic accumulation of cholestanol and bile alcohols. Clinical features include cholestasis, cataracts, chronic diarrhea, tendon xanthomas, and neurological deterioration. Chenodeoxycholic acid (CDCA) is the standard treatment for CTX. The RESTORE trial, a Phase 3 randomized withdrawal, crossover study with rescue medication, demonstrated that CDCA is well-tolerated in adults, suppressing abnormal bile acid synthesis and preventing cholestanol and bile alcohol accumulation in plasma.
Authors
- Pamela Vig (ORCID: https://orcid.org/0009-0000-4226-5435)
- Ryan Himes (ORCID: https://orcid.org/0000-0002-0116-2613)
- Will Garner (ORCID: https://orcid.org/0000-0003-0738-8696)
- Paulo Victor Sgobbi de Souza (ORCID: https://orcid.org/0000-0002-7416-7108)
- Michael J. Imperiale (ORCID: https://orcid.org/0000-0003-1218-6458)
- Paulo Ribeiro Nóbrega (ORCID: https://orcid.org/0000-0002-0021-9358)
- Jolan Terner-Rosenthal
- Andrea E. DeBarber (ORCID: https://orcid.org/0000-0001-8910-0259)
- P. Barton Duell (ORCID: https://orcid.org/0000-0002-0208-5154)
- Brian Fedor
- Vikram Prakash (ORCID: https://orcid.org/0000-0003-4392-7570)
- Cheryl Wong Po Foo
- Rana Dutta
- Joanne Quan
Institutions
- Orlando Health (US)
- Oregon Health & Science University (US)
- Universidade Federal do Ceará (BR)
- Ochsner Medical Center (US)
- Arnold Palmer Hospital for Children (US)
- Instituto Federal de Educação, Ciência e Tecnologia do Ceará (BR)
- Therapeutics Clinical Research (US)
- Children's Hospital of New Orleans (US)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102862
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00