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Global considerations for lifelong management and therapeutic development for phenylketonuria
Nicola Longo1, Takashi Hamazaki2, Suzanne Hollander3
1Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.
Insights
Phenylketonuria (PKU) management requires addressing unmet needs, including global newborn screening (NBS) and lifelong treatment access. Improving adherence and exploring novel therapies are crucial for better patient outcomes in this inherited metabolic disorder.
Area of Science:
- Metabolic Disorders
- Genetics
- Public Health
Background:
- Phenylketonuria (PKU) is an inherited metabolic disorder leading to toxic phenylalanine accumulation and potential neurocognitive impairment.
- Untreated PKU poses significant health risks, highlighting the need for effective management strategies.
Purpose of the Study:
- To review unmet needs in PKU management globally.
- To assess the importance of newborn screening (NBS) and chronic treatment options for PKU patients.
- To identify challenges and potential solutions for improving PKU care worldwide.
Main Methods:
- An international expert group conducted a literature review on PKU across diverse ethnicities and geographies.
- Treatment strategies and patient benefits were evaluated within a global context.
- Current challenges in PKU management, including adherence and access to care, were identified.
Main Results:
- Some countries lack universal NBS programs and a treatment-for-life approach for PKU.
- Challenges persist in treatment adherence due to factors like cost, social support, and clinical resources.
- Existing dietary and pharmacotherapies show limitations in efficacy and tolerability for some patients.
Conclusions:
- Expanding NBS programs and ensuring lifelong treatment access are critical for improving PKU outcomes.
- Addressing barriers to adherence and disease burden is essential for effective PKU management.
- Emerging therapies offer promise for addressing unmet needs in PKU treatment.
Abstract:
Phenylketonuria (PKU) is an inherited metabolic disorder characterized by the accumulation of toxic phenylalanine levels in the brain that can lead to neurocognitive impairment if untreated. This review evaluates unmet needs in PKU, the importance of newborn screening (NBS), and considerations for chronic treatment options. An international group of experts reviewed the available literature across ethnicities and geographies to identify unmet needs of individuals with PKU. Treatment was assessed in a global context to address patient benefit. Reflecting challenges to the worldwide PKU community, some countries have been unable to implement NBS programs and/or do not apply a treatment-for-life approach. Ongoing challenges for individuals with PKU include maintaining adherence to treatment guidelines for patient- and practice-specific reasons, such as inadequate access to low-cost treatment, insufficient social support, limited clinical staffing, and disease burden. Dietary interventions may not adequately address all symptoms, and some of the current pharmacotherapies may be associated with limited efficacy or adverse events. Several new therapies are being evaluated for the treatment of PKU, offering the potential to address unmet needs. Global availability of NBS programs, access to treatments, and a tenacious commitment to treatment-for-life are expected to improve outcomes for individuals with PKU across geographic regions.
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