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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. Interviewers classified each participant by their level of knowledge regarding gene therapy as either: low (little or no prior awareness); moderate (awareness of gene therapy as a concept in PKU); or high (working knowledge of gene therapy, e.g., vectors). In total, 33 participants were recruited (patients, n = 24; caregivers, n = 5; advocates, n = 4). The patient sample was well balanced among age groups, sex, and US/EU geographies. The participants' experiences and burden of living with PKU were largely negative, characterized by frustrations with current management consistent with prior reports. Most participants (n = 18/33) were identified as displaying moderate gene-therapy knowledge, 10/33 as displaying high knowledge, and 5/33 as displaying low knowledge. Both positive and negative perceptions were observed; positive perceptions were often linked to "hope" that gene therapy may represent a cure, whereas negative perceptions were linked to the "uncertainty" of outcomes. High knowledge of gene therapy appeared to trend with negative perceptions; 7/10 participants from this group reported high levels of concern over gene therapy. In contrast, participants who displayed low knowledge reported low (n = 3/5) or moderate (n = 2/5) concern, with predominantly positive perceptions. These data highlight the need for education around the theoretical risk:benefit profile of gene therapy. Despite current unknowns around gene therapy, our study demonstrates the important role of healthcare providers as educators who can use available data to provide balanced information to patients and caregivers.

SUBMITTER: Regier DS

PROVIDER: S-EPMC9248220 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Despite introduction of Kangaroo Mother Care (KMC) in Malawi over a decade ago, preterm birth remains the leading cause of neonatal mortality. Although KMC is initiated in the health care facility, robust community follow-up is critical for survival and optimal development of preterm and low birth weight infants post-discharge. The objective of this qualitative study was to gain insight into community and health worker understanding, attitudes, beliefs and practices around preterm and low birth weight babies and KMC in Malawi.A total of 152 participants were interviewed in two districts in southern Malawi, Machinga and Thyolo, in April 2015. Focus group discussions (groups = 11, n = 132) were conducted with pregnant women, community members and women who have practiced KMC. In-depth interviews (n = 20) were conducted with fathers who have practiced KMC, community and religious leaders, and health workers. Purposive and snowball sampling were employed to identify participants. Thematic content analysis was conducted.KMC mothers and fathers only learned about KMC and care for preterm newborns after delivery of a child in need of this care. Men typically were not included in KMC counseling due to societal gender roles. Health facilities were the main source of information on KMC, however informal networks among women provided some degree of knowledge exchange. Community leaders were regarded as major facilitators of health information, conveners, key influencers, and policy-makers. Religious leaders were regarded as advocates and emotional support for families with preterm infants. Finally, while many participants initially had negative feelings towards preterm births and KMC, the large majority saw a shift in their perceptions through health counseling, peer modeling, and personal success with KMC.The findings offer several opportunities to improve KMC implementation including 1) earlier introduction of KMC to pregnant women and their families that are at-risk for preterm birth, 2) greater involvement of men in KMC counselling, practice and care for preterm infants, and 3) strengthening and defining partnerships with community and religious leaders. Finally, as parental perceptions of preterm infants and KMC improved with successful KMC practice, it is hopeful that KMC itself can positively affect social norms surrounding preterm infants, leading to a virtuous cycle of improved perceptions of preterm infants and increased uptake of KMC.

Project description:BackgroundThe messages used to communicate about harm reduction are critical in garnering public support for adoption of harm reduction interventions. Despite the demonstrated effectiveness of harm reduction interventions at reducing overdose deaths and disease transmission, the USA has been slow to adopt harm reduction to scale. Implementation of evidence-based interventions has been hindered by a historical framing of drug use as a moral failure and related stigmatizing attitudes among the public toward people who use drugs. Understanding how professional harm reduction advocates communicate to audiences about the benefits of harm reduction is a critical step to designing persuasive messaging strategies.MethodsWe conducted qualitative interviews with a purposively recruited sample of U.S. professional harm reduction advocates (N = 15) to examine their perspectives on which types of messages are effective in persuading U.S. audiences on the value of harm reduction. Participants were professionals working in harm reduction advocacy at national- or state-level organizations promoting and/or implementing harm reduction. Semi-structured interviews were audio-recorded, transcribed, and analyzed using a hybrid inductive/deductive approach.ResultsInterviewees agreed that messages about the scientific evidence demonstrating the effectiveness of harm reduction approaches are important but insufficient, on their own, to persuade audiences. Interviewees identified two overarching messaging strategies they perceived as persuasive: using messages about harm reduction that align with audience-specific values, for example centering the value of life or individual redemption; and positioning harm reduction as part of the comprehensive solution to current issues audiences are facing related to drug use and overdose in their community. Interviewees discussed tailoring messages strategies to four key audiences: policymakers; law enforcement; religious groups; and the family and friends of people who use, or have used, drugs. For example, advocates discussed framing messages to law enforcement from the perspective of public safety.ConclusionsInterviewees viewed messages as most persuasive when they align with audience values and audience-specific concerns related to drug use and overdose death. Future research should test effectiveness of tailored messaging strategies to audiences using experimental approaches.

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

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