Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial

Abstract Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Living with the...

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Bibliographic Details
Published in:Orphanet Journal of Rare Diseases
Main Authors: Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Format: Article
Language:English
Published: BMC 2025-09-01
Subjects:
Classic galactosemia
Govorestat
Exit interview
Caregiver
Meaningful change
Online Access:https://doi.org/10.1186/s13023-025-04024-4

Internet

https://doi.org/10.1186/s13023-025-04024-4

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