VoT2: Investigations of Healthcare Delivery to Patients with PKU
Research type
Research Study
Full title
VoT2: Investigations of Healthcare Delivery to Patients with Phenylketonuria (PKU)
IRAS ID
284593
Contact name
Sarah Hadfield
Contact email
Clinicaltrials.gov Identifier
20/EM/0269, Reference number given when previously reviewed by REC - This is a new application taking into account issues raised by previous REC
Duration of Study in the UK
0 years, 2 months, 1 days
Research summary
Research Summary:
The main purpose of this investigator initiated study is to assess overall well-being among adolescents with PKU aged 12 to 17 years at one UK metabolic centre and compare these with patients attending the NCIMD – Adult Service at the Mater Hospital, Ireland and a PKU centre in Spain to see whether current resources meet patient needs. This will be conducted by patient data collection via questionnaires/survey. The study will focus on 180 (60 from each centre) adolescents and adults, as clinical experience indicates children with PKU <12 yo whose management resides primarily with parents mostly tend to meet Phe level targets (<360μmol/L). The MMUH site will focus on patients above 18 years as the NCIMD is an adult service. It is hoped that this data will give a description of mental health and quality of life outcome with 3 different approaches to the delivery of PKU care. Medical history will be collected from patient medical notes including: most recent height and weight, retrospective blood Phe results, comorbid diagnoses, medications, protein substitute and natural protein prescription. Similar data collection will occur at two other sites, and analyses of aggregate data will be undertaken to identify mental health /quality of life issues.Lay summary of study results: Phenylketonuria is a rare inherited neurometabolic disorder, arising due to deficiency of the enzyme phenylalanine hydroxylase, and resulting in increased blood phenylalanine concentrations. European guidelines recommend dietary treatment for life.
The aims of this study were to investigate the patient characteristics, health service use and costs associated with phenylketonuria in three European countries (United Kingdom, Ireland, Spain), and how management of this condition compares with recommended European guidelines.
The study sample comprised 33 adolescents treated for phenylketonuria in the United Kingdom, 50 adults treated for phenylketonuria in Ireland, and 31 adults treated for phenylketonuria in Spain. Obesity, and anxiety and/or depression were common comorbidities in all three groups, though Hospital Anxiety and Depression Scale and health related quality of life scores were similar to population norms. 39% of adolescents at the United Kingdom site were adherent with the phenylalanine-restricted diet, compared with 86% adults at the Ireland site. There was good control of blood phenylalanine levels in the adolescent sample (mean 405 μmol/L, standard deviation 105); values were higher among adults in Ireland (mean 643 μmol/L, standard deviation 328) and Spain (mean 513 μmol/L, standard deviation 278). The mean (SD) total cost of contacts for treatment was €1072 (€795) for children in the UK, €591 (€833) for adults in Ireland and €438 (€223) for adults in Spain, though different cost components were included in each. 27% of adolescents treated for phenylketonuria in the UK met the recommended guidelines for clinic visits and 79% for blood phenylalanine monitoring. Among the adults, 100% of the sample from Ireland met the recommended guidelines for the number of clinic visits (10% in Spain), and 16% of the sample from Ireland for the number of blood phenylalanine monitoring tests (7% in Spain).
Implementation of the European guidelines for management of Phenylketonuria varied across study sites.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
21/YH/0070
Date of REC Opinion
7 Jun 2021
REC opinion
Further Information Favourable Opinion