Many rare disease patients are familiar with high prices for treatment. In fact, the most expensive medication in the world treats a rare disease: Zolgensa, a gene therapy for spinal muscular atrophy (SMA) costs over two million dollars. While not every treatment comes with such a hefty price tag, they can still present patients with an economic burden, and treatment isn’t the only cost associated with a rare or chronic illness. A German study investigated this economic burden for phenylketonuria (PKU) patients for the year 2015.

About the Study

This retrospective, matched-cohort study compared the economic burdens of adults living with PKU to non-PKU controls. Overall, 377 PKU patients were enrolled alongside 3,770 controls. Through analysis of 2015 records, the researchers were able to compare and contrast the experiences of both groups in regard to resource utilization and healthcare costs.

In the end, they discovered that PKU patients face:

• Higher total mean costs, with a mean difference of €3307
• Higher mean costs for pharmaceuticals, with a mean difference of €1912
• Higher mean costs for dietary amino-acid supplements, with a mean difference of €1268
• Higher mean outpatient costs, with a mean difference of €395
• Higher mean inpatient costs, with a mean difference of €904
• Higher mean cost for remedies and other aids, with a mean difference of €97

Overall, the researchers discovered that PKU patients face a much higher economic burden than their non-PKU counterparts. Not only did they uncover the higher cost associated with phenylketonuria, but they found that PKU patients stay for longer hospital visits and go to more outpatient visits.

About Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare, genetic condition that is characterized by the accumulation of the amino acid phenylalanine. This buildup leads to symptoms that begin within the first few months of life, such as decreased bone strength, seizures, developmental delays, hyperactivity, heart defects, intellectual delays, skin rash, microcephaly, musty odor, and fair skin and eyes. These symptoms happen due to a recessive mutation in the gene responsible for the formation of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine.

In terms of treatment, early detection yields the best results. Dietary changes are the main form of treatment, as affected individuals should avoid ingesting high-protein foods that contain the amino acid phenylalanine. This diet may contain adult formula supplements, specialized baby formula for infants, and other PKU-friendly foods. Additionally, doctors should closely monitor a patient’s levels of phenylalanine in the blood and administer Kuvan.