[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100649031":3},{"organization":4,"armGroups":7,"interventions":27,"overallOfficials":45,"centralContacts":50,"locations":59,"responsibleParty":74,"collaborators":76,"id":79,"slug":80,"hasResults":81,"nctId":82,"briefTitle":83,"officialTitle":84,"acronym":10,"eligibilityCriteria":85,"healthyVolunteers":86,"sex":87,"minAge":88,"maxAge":89,"enrollmentInfo":90,"targetDuration":10,"studyType":93,"phases":10,"briefSummary":94,"conditions":95,"keywords":10,"overallStatus":61,"whyStopped":10,"lastUpdateSubmitDate":97,"lastUpdatePostDateStruct":98,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":106},{"fullName":5,"class":6},"Birmingham Women's and Children's NHS Foundation Trust","OTHER",[8,14,19,24],{"label":9,"type":10,"description":11,"interventionNames":12},"PKU - Diet Only",null,"Children and adolescents aged 3-17 years with early-treated phenylketonuria who are managed exclusively with a phenylalanine-restricted diet and are not receiving sapropterin or sepiapterin. Participants provide a faecal sample and undergo dietary, clinical, gastrointestinal symptom, and stool assessments.",[13],"Other: Phenylalanine-restricted diet alone",{"label":15,"type":10,"description":16,"interventionNames":17},"PKU - Sapropterin","Children and adolescents aged 3-17 years with early-treated phenylketonuria who have been receiving sapropterin for at least 3 months and have achieved at least a 100% increase in natural protein tolerance compared with before treatment. Sapropterin treatment is not assigned as part of this observational study. Participants provide a faecal sample and undergo dietary, clinical, gastrointestinal symptom, and stool assessments.",[18],"Drug: Sapropterin Dihydrochloride",{"label":20,"type":10,"description":21,"interventionNames":22},"PKU - Sepiapterin","Children and adolescents aged 3-17 years with early-treated phenylketonuria who have been receiving sepiapterin for at least 3 months and have achieved at least a 100% increase in natural protein tolerance compared with before treatment. Sepiapterin treatment is not assigned as part of this observational study. Participants provide a faecal sample and undergo dietary, clinical, gastrointestinal symptom, and stool assessments.",[23],"Drug: Sepiapterin",{"label":25,"type":10,"description":26,"interventionNames":10},"Healthy Household Controls","Healthy household members without phenylketonuria who are recruited at a ratio of one control for each participant with phenylketonuria. Controls provide a faecal sample and complete the relevant dietary, gastrointestinal symptom, and stool assessments.",[28,32,39],{"type":6,"name":29,"description":30,"armGroupLabels":31,"otherNames":10},"Phenylalanine-restricted diet alone","Participants are managed with a phenylalanine-restricted diet and prescribed protein substitutes as part of their usual clinical care. They are not receiving sapropterin or sepiapterin. Dietary treatment is not assigned or modified by this observational study.",[9],{"type":33,"name":34,"description":35,"armGroupLabels":36,"otherNames":37},"DRUG","Sapropterin Dihydrochloride","Participants receive sapropterin as part of their usual clinical care, alongside an individualised phenylalanine-restricted diet. Sapropterin treatment and dosage are prescribed independently of this observational study and are not assigned or modified by the investigators.",[15],[38],"Kuvan",{"type":33,"name":40,"description":41,"armGroupLabels":42,"otherNames":43},"Sepiapterin","Participants receive sepiapterin as part of their existing clinical management, alongside an individualised phenylalanine-restricted diet. Sepiapterin treatment and dosage are determined independently of this observational study and are not assigned or modified by the investigators.",[20],[44],"Sephience",[46],{"name":47,"affiliation":48,"role":49},"Anita MacDonald, PhD","Birmingham Children's Hospital","PRINCIPAL_INVESTIGATOR",[51,55],{"name":47,"role":52,"phone":53,"phoneExt":10,"email":54},"CONTACT","+44 121 333 9999","anita.macdonald@nhs.net",{"name":56,"role":52,"phone":57,"phoneExt":10,"email":58},"Catarina Rodrigues, MSc","+44 121 472 1377","catarina.rodrigues1@nhs.net",[60],{"facility":48,"status":61,"city":62,"state":62,"zip":63,"country":64,"countryCode":65,"cosmosGeoPoint":66,"geoPoint":71,"contacts":72},"RECRUITING","Birmingham","B4 6NH","United Kingdom","UK",{"type":67,"coordinates":68},"Point",[69,70],-1.89983,52.48142,{"lat":70,"lon":69},[73],{"name":47,"role":52,"phone":53,"phoneExt":10,"email":54},{"type":75,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[77],{"name":78,"class":6},"Universidade Nova de Lisboa","100649031","impact-of-a-phe-restricted-diet-on-gut-health-in-children-with-pku-100649031",false,"NCT07728032","Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU","Impact Of A Phenylalanine-Restricted Diet On The Microbiota Composition And Metabolome Of Children With PKU","Inclusion Criteria:\n\nParticipants with PKU:\n\n* Aged 3-17 years.\n* Confirmed diagnosis of phenylketonuria following newborn screening.\n* Receiving ongoing clinical management for PKU.\n* For the diet-only cohort: managed with standard phenylalanine-restricted dietary treatment and not receiving sapropterin or sepiapterin.\n* 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.\n* 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.\n\nHealthy household controls:\n\n* Aged 3 years or older.\n* Living in the same household as a participating child or adolescent with PKU.\n* No known diagnosis of PKU or another inherited metabolic disorder.\n\nExclusion Criteria:\n\n* Congenital malformations.\n* Chronic gastrointestinal disease.\n* Endocrine, liver, or kidney disease.\n* Other chronic medical conditions likely to affect gut microbiota composition.\n* Following a therapeutic diet for a medical condition other than PKU within the six months before stool sample collection.",true,"ALL","3 Years","17 Years",{"count":91,"type":92},148,"ESTIMATED","OBSERVATIONAL","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.\n\nDiet 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.\n\nThis 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.\n\nFaecal samples are collected for shotgun metagenomic sequencing and metabolite profiling. Dietary intake, gastrointestinal symptoms, stool characteristics, clinical information, and PKU treatment are also assessed.\n\nThe 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.",[96],"Phenylketonuria","2026-07-21",{"date":99,"type":100},"2026-07-27","ACTUAL",{"date":102,"type":100},"2025-10-01",{"date":104,"type":92},"2026-12",{"name":5,"class":6},1]