A Drug Trial for Phenylketonuria Has Dosed Its First Patient

A potential treatment for phenylketonuria has progressed to clinical trial stage and the first patient has been dosed, reports Business Wire. This follows successful trials of the drug in non-human studies.
Phenylketonuria (PKU) is an inherited condition that prevents the body from breaking down Phe, a molecule found in dietary protein. If left untreated Phe will build up to toxic levels that result in intellectual disability. PKU affects approximately 16,500 people in the US. Its underlying cause is a mutation to the gene that codes for phenylalanine hydroxylase (PAH), a liver enzyme that breaks down Phe. This mutation prevents the enzyme from functioning properly and so Phe collects in the brain and blood.

Current treatment options for people with PKU are limited. The main method of regulating Phe levels is an extremely strict diet that cuts out all foods containing Phe and replaces protein with special Phe-free supplements. There is one medication called Kuvan, but it is only available to some patients, and a strict diet still needs to be followed while taking it. There is therefore a significant unmet patient need for a treatment that will work effectively, safely, and remove the need for such careful food control.

The new medicine being trialled is produced by the company Synlogic and is called SYNB1618. It may change this. The treatment works by introducing genetically engineered bacteria into the body through an oral medication. These bacteria could then break down Phe that collects in the brain and blood, which may allow patients to broaden their diet. So far the medicine has been trialled on mice and non-human primates. The current study, which compares the drug to a placebo in patients, will provide a better indication of results of the treatment for humans.
The possible treatment is still at an early stage of development, and it is unclear what its effects will be and whether it will eventually become available to all patients. However, this clinical trial is a promising development for patients with PKU. An update on the trial is expected to come later this year, and the full results are scheduled for 2019.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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