Phenylketonuria (PKU): An early phase trial of a new treatment for PKU
PKU is an inherited disease involving loss of the body's ability to metabolise a common amino acid in food called phenylalanine. Accumulation of toxic byproducts can damage the nervous system, leading to intellectual disability, cognitive impairment and mood disorders. Available treatments, include strict dietary restrictions and drugs, are difficult to maintain and not always effective.
This study is trialing a novel drug, called JNT-517, which works by increasing excretion of phenylalanine in the urine to reduce circulating levels in the blood. It is anticipated that doing so should limit the toxic effects of phenylalanine byproducts on the nervous system, to provide a more effective and safe treatment for PKU. JNT-517 has been tested in healthy volunters. This is the first study to test its safety and effectiveness in patients with PKU.
What you need to know
Who can take part?
The study is open to participants who meet the following criteria:
• People aged 18 and over with a confirmed medical diagnosis of PKU
• Must discontinue any drugs for PKU (sapropterin "Kuvan") prior to enrolling in the study
• Must be willing to observe dietary restrictions for the duration of the study
• Must agree to avoid pregnancy while on the study
• Any psychiatric illness must be well controlled for the past 6 months
• Certain medical conditions may prevent participation, as determined by the study doctor
• Use of alcohol or other drugs of abuse may prevent participation
What is involved for you?
Study participants will undertake the following procedures, tests and assessments:
• Weekly clinic visits for five weeks
• Take oral tablets containing JNT-517 two times a day for four weeks
• Physical exam and medical history to confirm eligibility
• Blood and urine tests
• Pregnancy tests in women who can have children
• Electrocardiograms
• Maintain a food diary
