NCT07728032 Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
| NCT ID | NCT07728032 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Birmingham Women's and Children's NHS Foundation Trust |
| Condition | Phenylketonuria |
| Study Type | OBSERVATIONAL |
| Enrollment | 148 participants |
| Start Date | 2025-10-01 |
| Primary Completion | 2026-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 148 participants in total. It began in 2025-10-01 with a primary completion date of 2026-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent neurological complications. Some individuals with PKU respond to pharmacological treatments, including sapropterin, a synthetic form of tetrahydrobiopterin (BH4), or sepiapterin. These treatments may increase Phe tolerance and allow a less restrictive diet. Diet is an important determinant of gut microbiota composition and function. However, the effects of the Phe-restricted diet and pharmacologically enabled dietary relaxation on the gut microbiota in PKU remain poorly understood. This observational study includes children and adolescents with PKU aged 3-17 years attending Birmingham Children's Hospital. Participants include those managed exclusively with a Phe-restricted diet, those receiving sapropterin, and those receiving sepiapterin. One healthy household control is recruited for each participant with PKU. Faecal samples are collected for shotgun metagenomic sequencing and metabolite profiling. Dietary intake, gastrointestinal symptoms, stool characteristics, clinical information, and PKU treatment are also assessed. The study investigates whether gut microbiota composition, microbial functional potential, and faecal metabolite profiles differ between participants managed with a Phe-restricted diet, those receiving pharmacological treatment, and healthy household controls. The findings may improve understanding of the relationships between PKU treatment, dietary restriction, gastrointestinal health, and the gut microbiome and may inform future nutritional strategies for individuals with PKU.
Eligibility Criteria
Inclusion Criteria: Participants with PKU: * Aged 3-17 years. * Confirmed diagnosis of phenylketonuria following newborn screening. * Receiving ongoing clinical management for PKU. * For the diet-only cohort: managed with standard phenylalanine-restricted dietary treatment and not receiving sapropterin or sepiapterin. * For the sapropterin cohort: receiving sapropterin for at least three consecutive months and having achieved at least a 100% increase in natural protein tolerance compared with the pre-treatment prescription. * For the sepiapterin cohort: receiving sepiapterin for at least three consecutive months and having achieved at least a 100% increase in natural protein tolerance compared with the pre-treatment prescription. Healthy household controls: * Aged 3 years or older. * Living in the same household as a participating child or adolescent with PKU. * No known diagnosis of PKU or another inherited metabolic disorder. Exclusion Criteria: * Congenital malformations. * Chronic gastrointestinal disease. * Endocrine, liver, or kidney disease. * Other chronic medical conditions likely to affect gut microbiota composition. * Following a therapeutic diet for a medical condition other than PKU within the six months before stool sample collection.
Contact & Investigator
Anita MacDonald, PhD
PRINCIPAL INVESTIGATOR
Birmingham Children's Hospital
Frequently Asked Questions
Who can join the NCT07728032 clinical trial?
This trial is open to participants of all sexes, aged 3 Years or older, up to 17 Years, studying Phenylketonuria. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07728032 currently recruiting?
Yes, NCT07728032 is actively recruiting participants. Contact the research team at anita.macdonald@nhs.net for enrollment information.
Where is the NCT07728032 trial being conducted?
This trial is being conducted at Birmingham, United Kingdom.
Who is sponsoring the NCT07728032 clinical trial?
NCT07728032 is sponsored by Birmingham Women's and Children's NHS Foundation Trust. The principal investigator is Anita MacDonald, PhD at Birmingham Children's Hospital. The trial plans to enroll 148 participants.