Phenylketonuria (PKU) is a disease whose severity and burden remains poorly understood. There is a false perception that early diagnosis and a good standard of care have ‘solved’ the problem, and that all European patients have equal access to such care.
PKU is a rare inherited genetic disorder resulting from a deficiency in the enzyme that metabolises the amino acid phenylalanine (Phe). If left untreated, PKU causes brain damage, severe developmental, psychological and psychiatric disorders in patients. PKU affects each patient differently throughout their lives depending on the severity of their disease, their age at diagnosis, the treatments they follow as well as a number of other factors. From birth, through adolescence, to old age, patients with PKU require daily, lifelong rigorous management to maintain good health, good nutritional status, good cognition, good psychological health and overall acceptable quality of life.
Although PKU is diagnosed early through newborn screening programmes, and patients are immediately started on a specific nutritional therapy called the ‘low-Phe’ diet (the standard of care), patients with PKU, their families and their caregivers are faced with substantial health complications, care and social burden and Unmet Medical Need (UMN).
This Joint Policy Paper is the result of a collaboration among patients, clinicians and other key stakeholders directly affected by, and invested in improving, the treatment and care of PKU patients. It aims to raise awareness of PKU, the severity of the disease and to set out the unmet medical needs that still exist for patie
Unmet Medical Need (UMN)is a critical concept in healthcare, guiding the identification of gaps in treatment and care. It is used to prioritise health resources and drive innovation where they are most needed, ultimately enhancing patient-centred care. PKU is a disease where, despite early diagnosis, low mortality, the general concept of care (dietary treatment) has remained largely unchanged since the 1960s and patients still need better care and treatment options. However, given the low mortality and dietary treatment, PKU is also a disease that could wrongly be perceived as having ‘low’ UMN.
As the European Union (EU) revises its General Pharmaceutical Legislation (GPL), it plans to include, for the first time, definitions of UMN and high UMN (HUMN) to inform decisions around EU incentives (e.g. market exclusivity and, regulatory data protection periods), this paper aims to contribute to the discussion in EU and national policy and decision-making circles. PKU provides a concrete example of a rare disease where, despite standards of care existing, significant UMNs remain and the disease and treatment are substantially burdensome on individuals, family and society. Using PKU as a focus, this paper illustrates how any definition of UMN, as well the criteria for determining it, need to be carefully calibrated to be neither too strict nor too narrow. If the unmet needs of patients with PKU are not fully recognised, they cannot be fully addressed.