Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates

ABSTRACT: Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene for the enzyme phenylalanine hydroxylase. Resulting loss of phenylalanine (Phe) metabolism requires strict dietary therapy and/or medication to prevent toxic accumulation of Phe. Novel investigational therapies, including gene therapies that aim to address underlying causes of PKU, are now entering clinical trials. However, perceptions of this technology in the PKU community have not been assessed. We conducted a qualitative survey recruiting adult patients, caregivers, and patient advocates from the US and 3 EU countries to assess the impact of living with PKU and the perceptions of gene therapy. Telephone interviews were conducted for up to 60 min following a standardized discussion guide. Interviewer

SUBMITTER: Regier D 

PROVIDER: S-EPMC9248220 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature