This Phenylketonuria Patient Helped Test a Breakthrough Therapy Only to Lose Access Once the Trial Ended

According to a story from BBC, Louise Moorhouse gets the nutrition that she needs through two sources: pills and foul tasting nutrient shakes. This is because she was born with phenylketonuria (PKU) a rare disorder that makes regular food potentially dangerous to her. However, Louise’s life was brought back to normal when she participated in a clinical trial for the drug Kuvan, which allowed her to eat normally. Unfortunately, after the trial was finished, she was no longer able to get access to the treatment.

About Phenylketonuria (PKU)

Phenylketonuria (PKU) is a type of metabolic disorder affecting the enzyme phenylalanine, which builds up in the body and can cause serious problems. Normally, phenylalanine is broken down, but a mutation affecting the PAH prevents this from happening in patients with the disorder. Prompt treatment is essential to avoid major complications. Symptoms of phenylketonuria include small head size, low birth weight, an unusual musty odor, pale skin, behavioral problems, intellectual disability, heart issues, seizures, and mental disorders. All of these symptoms can be prevented with proper and timely treatment; phenylketonuria is routinely screened for in newborns for this reason. The primary management strategy is a highly controlled diet that is low in phenylalanine. Supplements may also be considered. Most patients eventually go off the diet when they reach adulthood. Some older patients may still have trouble managing the condition later in life. To learn more about phenylketonuria, click here.

Too Expensive?

The reason that Louise can’t access Kuvan anymore is because she is a citizen of the UK, and NHS England has refused to approve coverage of Kuvan on the system. The drug, which was developed by BioMarin, which prices the drug at £70,000 per year. When the drug first came up for coverage, the NHS decided that it was too expensive for the known impact. However, even years later, when more data has emerged, the NHS has yet to change its mind. 

Negotiations between BioMarin and the NHS have not been productive, and Louise and other phenylketonuria patients in the UK are still stuck on a restricted diet.

BioMarin was shocked when they learned that there were any ex-trial patients that were not getting treated with Kuvan, and encouraged Louise and other former trial participants to talk to their physician about applying for treatment access.

While Louise will hopefully get access to Kuvan soon, this story is another example of steep prices for rare therapies restricting treatment access.

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