Cardiovascular risk in Phenylketonuria
Research type
Research Study
Full title
A study into the cardiovascular risk of Phenylketonuria patients on a low Phenylalanine treatment diet.
IRAS ID
254922
Contact name
Radha Ramachandran
Contact email
Sponsor organisation
Guy's and St Thomas' NHS Foundation Trust
Clinicaltrials.gov Identifier
N/A, N/a
Duration of Study in the UK
3 years, 5 months, 1 days
Research summary
Cardiovascular disease (CVD) is the leading cause of deaths worldwide. Many factors contribute to CVD including diet, physical activity, smoking and genetics. Phenylketonuria (PKU) is an inherited metabolic disorder where patients cannot metabolise an amino acid (building block of protein) called phenylalanine (Phe). Elevated blood Phe can cause irreversible neurological damage. Current treatment for PKU requires patients to consume a low-Phe diet supplemented with fortified foods containing amino acids, vitamins and minerals, to maintain safe blood Phe levels.
The literature is inconclusive as to whether Phenylketonuria and its treatment diet has an effect on CVD. The long-term effects of the treatment diet are currently unknown.
One marker for CVD risk is the carotid intima-media thickness measurement (CIMT). This is the thickness of part of the wall of the artery supplying blood to the head and brain. CIMT is commonly used as a surrogate marker for CVD and can predict coronary artery disease. A larger CIMT increases the risk of a cardiovascular event.
When the heart beats it sends a wave of energy through blood vessels. This is called a pulse wave. The velocity of the pulse wave is a common marker for arterial stiffness. An elevated velocity indicates a stiffer artery, which increases the risk of CVD.
This study will aim to assess the CVD risk in Phenylketonuria patients who are treated with a low-Phe diet. Patients with PKU at Guys and St Thomas’ Centre for Inherited Metabolic Diseases over the age of 18 will be invited to take part in the study. Data will be collected on blood biomarkers, height, weight and diet history. Measurements will be taken of CIMT, pulse wave velocity and blood pressure.
REC name
London - Westminster Research Ethics Committee
REC reference
19/LO/1225
Date of REC Opinion
9 Sep 2019
REC opinion
Favourable Opinion