[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"phenylketonuria\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:phenylketonuria":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,42,65,90,114,134,157,177,208,240,271,293],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100647863","phase-1-a-trial-to-examine-if-repinatrabit-is-processed-differently-in-adults-with-reduced-liver-or-kidney-function-compared-to-adults-with-normal-liver-and-kidney-function-100647863",false,"NCT07713758","A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function","A Phase 1, Open-label, Single-dose, Parallel-group Study Evaluating the Pharmacokinetics of Oral Repinatrabit (JNT-517) Immediate Release Tablet in Hepatic or Renal Impaired Adult Participants Matched to Adult Participants With Normal Hepatic and Renal Function","Inclusion criteria:\n\n1. Body mass index (BMI) from 18.0 to 38.0 kilograms per square meter (kg\u002Fm\\^2) (inclusive).\n2. Able to provide written, informed consent.\n3. Male participants and female participants of childbearing potential (POCBP) must agree to remain fully abstinent from intercourse where pregnancy can occur OR practice 2 different contraceptive methods, where at least one must be highly effective.\n4. Otherwise be in generally good health.\n5. Additional criteria for Group 1:\n\n   i. Have moderate hepatic impairment determined using Child-Pugh classification (Class B).\n\n   ii. Have relatively stable hepatic function for the duration of the study as determined by the investigator and liver function test at the time of screening or stable hepatic function 1 year prior to screening.\n\n   iii. Have normal renal function. iv. Have a clinical diagnosis of hepatic cirrhosis based on biopsy and\u002For clinical criteria.\n6. Additional criteria for Group 2:\n\n   i. Have estimated glomerular filtration rate based on the Chronic Kidney Disease-Epidemiology Collaboration (eGFRCKD-EPI) lesser than (\\\u003C) 30 milliliters per minute per 1.73 square meters (mL\u002Fmin\u002F1.73 m\\^2) indicating severe renal impairment.\n\nii. Not currently be on dialysis. iii. Have relatively stable renal function as determined by eGFRCKD-EPI. 7) Additional criteria for Group 3: i. eGFRCKD-EPI greater than or equal to (≥) 90 mL\u002Fmin\u002F1.73 m\\^2 indicating normal renal function.\n\nii. Have liver enzymes within normal limits.\n\nExclusion criteria:\n\n1. Participants who are breastfeeding.\n2. Participants who have a positive pregnancy test result prior to receiving the investigational medical product (IMP).\n3. Participants with international normalized ratio (INR) greater than (\\>) 2.3. Participants with hepatic impairment with elevated INR will be excluded based on the investigator's discretion.\n4. Participants with hepatic carcinoma or porto-hepatic shunts that have been surgically created or planted.\n5. A history of difficulty in obtaining intravenous access.\n6. The donation of blood or plasma \\> 250 milliliters (mL) within 30 days prior to screening or received \\> 50 mL of blood or plasma within 30 days prior to screening.\n7. Participants who have taken an investigational drug within 30 days prior to screening.\n8. Exposure to any substances known to stimulate hepatic microsomal enzymes within 30 days prior to screening (eg, occupational exposure to pesticides, organic solvents, etc).\n9. Any participant who, in the opinion of the investigator, should not participate in the trial.\n10. Previous exposure to repinatrabit.\n11. Additional criteria for Group 1: History of serious mental disorder including participants who have greater than Grade 1 encephalopathy as assessed by the Child-Pugh score and\u002For the investigator's judgment.\n12. Additional criteria for Group 2:\n\n    i) Participants that have undergone a renal transplant. ii) Participants expected to require dialysis within 45 days. iii) Clinically significant abnormal findings in the serum chemistry, hematology, or urinalysis results obtained at screening or on Day -1, other than those associated with underlying renal conditions and other stable medical conditions consistent with the disease processes.\n13. Additional criteria for Group 3: History of or current hepatitis, or carriers of hepatitis B surface antigen (HBsAg) and\u002For hepatitis C antibodies (anti-HC).\n\nNote: Other protocol-specified inclusion\u002Fexclusion criteria may apply.",true,"ALL","18 Years","65 Years",{"count":21,"type":22},32,"ESTIMATED","INTERVENTIONAL",[25],"PHASE1","This trial is intended to understand how the body processes repinatrabit in people with moderate liver impairment and severe kidney impairment and also to compare these results with people of similar age, weight, and sex who have normal liver function.",[28],"Phenylketonuria","RECRUITING","2026-08-10",{"date":32,"type":33},"2026-08-12","ACTUAL",{"date":35,"type":33},"2026-07-17",{"date":37,"type":22},"2027-02-15",{"name":39,"class":40},"Otsuka Pharmaceutical Development & Commercialization, Inc.","INDUSTRY",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":49,"enrollmentInfo":50,"targetDuration":4,"studyType":23,"phases":52,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":64},"100611488","phase-1-a-study-to-evaluate-safety-tolerability-pharmacokinetics-and-pharmacodynamics-of-ag-181-in-subjects-with-phenylketonuria-100611488","NCT07241234","A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria","A Phase 1b, Open-label, Multicenter, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of AG-181 in Subjects With Phenylketonuria","Key Inclusion Criteria:\n\n* Diagnosis of PKU, defined as documented presence of 2 mutant alleles in the phenylalanine hydroxylase (PAH) gene, of which at least 1 is the R408W mutation, as determined during Screening per the genotyping performed by the study central genotyping laboratory.\n* At least 1 plasma Phe concentration greater than (\\>) 600 micromoles per liter (μmol\u002FL) in the 52 weeks before providing informed consent.\n* Average concentration of plasma Phe \\> 600 μmol\u002FL in Phe samples taken during Screening, with no individual assessment below 360 μmol\u002FL. Any Phe samples taken after Day -20 will not be included.\n* Body mass index (BMI) greater than or equal to (≥) 18.0 kilograms per meter square (kg\u002Fm\\^2) to lesser than or equal to (≤) 35.0 kg\u002Fm\\^2 and weight ≥ 50 kilograms (kg) at any time during the Screening Period.\n* Documented approval from a dietitian confirming that the subject can maintain their diet consistent in protein and Phe intake throughout the study as outlined in the Diet Manual.\n\nKey Exclusion Criteria:\n\n* Prior exposure to AG-181.\n* Receiving inhibitors of P-glycoprotein (P-gp) that have not been stopped for ≥ 5 days or a timeframe equivalent to 5 half-lives (whichever is longer) before administration of the first dose of study drug.\n* Receiving products that are strong inhibitors or strong inducers of cytochrome P450 CYP1A2, CYP2C8, or CYP3A that have not been stopped for ≥ 28 days before administration of the first dose of study drug.\n* Receiving treatment with an acid-reducing agent, including but not limited to proton pump inhibitors and H2 blockers. Short-acting acid-reducing agents such as calcium carbonate are permitted.\n* Any preexisting condition that could (in the opinion of the Investigator) interfere with gastrointestinal anatomy or motility that may disrupt the absorption, metabolism, and\u002For excretion of the study drug.\n* Any preexisting condition that could (in the opinion of the Investigator) interfere with hepatic or renal function that may disrupt the absorption, metabolism, and\u002For excretion of the study drug.\n* Inability to tolerate oral medication.\n* Unwillingness to washout from tetrahydrobiopterin (BH4) supplementation (eg, sapropterin dihydrochloride, Kuvan), pegvaliase-pqpz (Palynziq), or any other PKU therapy by Day -30 during Screening.","69 Years",{"count":51,"type":22},20,[25],"The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).",[28],"2026-07-29",{"date":57,"type":33},"2026-07-30",{"date":59,"type":33},"2026-04-17",{"date":61,"type":22},"2028-01-17",{"name":63,"class":40},"Agios Pharmaceuticals, Inc.",4,{"id":66,"slug":67,"hasResults":11,"nctId":68,"briefTitle":69,"officialTitle":70,"acronym":71,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":73,"enrollmentInfo":74,"targetDuration":4,"studyType":23,"phases":76,"briefSummary":78,"conditions":79,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":89},"100539323","phase-3-a-study-of-sepiapterin-in-participants-with-phenylketonuria-pku-100539323","NCT06302348","A Study of Sepiapterin in Participants With Phenylketonuria (PKU)","A Phase 3b Open-Label Study of Long-Term Neurocognitive Outcomes in Children With Phenylketonuria Treated With Sepiapterin","EPIPHENY","Key Inclusion Criteria:\n\nFor all participants:\n\n* Women of childbearing potential must have a negative pregnancy test at Screening and agree to abstinence or the use of at least one highly effective form of contraception for the duration of the study, and for at least 90 days after the last dose of the study drug.\n* Willing to maintain prescribed daily protein\u002FPhe during Screening and Part 1.\n\nFor participants ≥1 month of age at Screening:\n\n* Established diagnosis of PKU with hyperphenylalaninemia (HPA) evidenced by at least 2 blood Phe measurement ≥600 micromoles (μmol)\u002Fliter (L) as documented in the medical history.\n* A minimum of 1 documented blood Phe measurement \\\u003C480 μmol\u002FL within 1 month prior to Screening.\n* Two screening blood Phe concentration values must be in the range ≥120 to ≤480 μmol\u002FL.\n\nFor participants \\\u003C1 month of age at the time of informed consent\u002Fassent only:\n\n* Blood Phe at newborn screening ≥600 μmol\u002FL.\n\nFor participants ≥30 months to \\\u003C10 years of age:\n\n* Baseline FSIQ score ≥80.\n\nKey Exclusion Criteria:\n\n* History of allergies or adverse reactions to any of the ingredients or excipients of synthetic tetrahydrobiopterin (BH4) or sepiapterin.\n* Serious neuropsychiatric illness (for example, major depression) not currently under medical control or other concurrent disease or condition that, in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant.\n* Treatment with BH4 supplementation (sapropterin, KUVAN®) within 3 months prior to Screening.\n* Current participation in another investigational drug study or use of any investigational agent within 30 days prior to Screening.\n* Confirmed diagnosis of a primary BH4 deficiency as evidenced by biallelic pathogenic mutations in 6-pyruvoyltetrahydropterin synthase, recessive Guanosine-5'-triphosphate (GTP) cyclohydrolase I, sepiapterin reductase, quinoid dihydropteridine reductase, or pterin 4-alphacarbinolamine dehydratase genes.\n* Any clinically significant laboratory abnormality as determined by the investigator.\n* Any past medical history of an abnormal physical examination and\u002For laboratory findings indicative of signs or symptoms of renal disease, including calculated (Bedside Schwartz Equation) glomerular filtration rate (GFR) \\\u003C60 milliliters (mL)\u002Fminute (min)\u002F1.73 square meter (m\\^2).\n* Major surgery within 90 days prior to Screening visit.\n* Previous treatment for \\>6 weeks with sepiapterin (that is, Sephience).\n\nNote: Other protocol-defined inclusion and exclusion criteria may apply.","9 Years",{"count":75,"type":22},56,[77],"PHASE3","The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.",[28],"2026-07-22",{"date":82,"type":33},"2026-07-23",{"date":84,"type":33},"2024-03-04",{"date":86,"type":22},"2031-02-28",{"name":88,"class":40},"PTC Therapeutics",10,{"id":91,"slug":92,"hasResults":11,"nctId":93,"briefTitle":94,"officialTitle":95,"acronym":4,"eligibilityCriteria":96,"healthyVolunteers":16,"sex":17,"minAge":97,"maxAge":98,"enrollmentInfo":99,"targetDuration":4,"studyType":101,"phases":4,"briefSummary":102,"conditions":103,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":104,"lastUpdatePostDateStruct":105,"startDateStruct":107,"completionDateStruct":109,"leadSponsor":111,"locationsCount":41},"100649031","impact-of-a-phe-restricted-diet-on-gut-health-in-children-with-pku-100649031","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.","3 Years","17 Years",{"count":100,"type":22},148,"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.",[28],"2026-07-21",{"date":106,"type":33},"2026-07-27",{"date":108,"type":33},"2025-10-01",{"date":110,"type":22},"2026-12",{"name":112,"class":113},"Birmingham Women's and Children's NHS Foundation Trust","OTHER",{"id":115,"slug":116,"hasResults":11,"nctId":117,"briefTitle":118,"officialTitle":118,"acronym":119,"eligibilityCriteria":120,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":121,"targetDuration":4,"studyType":101,"phases":4,"briefSummary":123,"conditions":124,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":41},"100645870","eating-disorders-in-patients-with-phenylketonuria-100645870","NCT07698743","Eating Disorders in Patients With Phenylketonuria","TCA-PKU","Inclusion Criteria:\n\n* Subjects followed for PKU at Nancy University Hospital\n* Subjects willing to participate\n\nExclusion Criteria:\n\n* Subjects not villing to participate",{"count":122,"type":22},70,"The prevalence of eating disorders and BMI are significantly higher in PKU patients than in the general population. The protein-restricted diet associated with high carbohydrate intake and the severity of the genetic defect and disease can lead to weight gain in these patients; However, the link between restrictive diets, EDs, and obesity has not been demonstrated in patients with PKU. These issues remain poorly explored, meaning that patients may not be detected and treated.",[28],"2026-07-07",{"date":127,"type":33},"2026-07-13",{"date":129,"type":33},"2025-12-04",{"date":131,"type":22},"2028-04-02",{"name":133,"class":113},"Central Hospital, Nancy, France",{"id":135,"slug":136,"hasResults":11,"nctId":137,"briefTitle":138,"officialTitle":139,"acronym":4,"eligibilityCriteria":140,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":141,"targetDuration":4,"studyType":23,"phases":143,"briefSummary":144,"conditions":145,"keywords":146,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":148,"lastUpdatePostDateStruct":149,"startDateStruct":151,"completionDateStruct":153,"leadSponsor":155,"locationsCount":156},"100590769","phase-3-a-study-of-jnt-517-in-participants-with-phenylketonuria-pku-100590769","NCT06971731","A Study of JNT-517 in Participants With Phenylketonuria (PKU)","A Phase 3, Double-Blind, Randomized, Two-Period, Multicenter, Placebo-Controlled, Efficacy and Safety Study of JNT-517 for the Treatment of Participants With Phenylketonuria","Inclusion Criteria:\n\n1. Males and females ≥18 years of age on Day 1\n2. Clinical diagnosis of PKU\n3. Average of at least 3 plasma Phe levels (after \\>4-hour fast) during Screening period of ≥360 μmol\u002FL\n4. Not on pegvaliase within 4 weeks prior to Screening\n5. If on sapropterin or large neutral amino acids, such as PheBloc®, NeoPhe®, and PreKunil® at Screening, must be on a stable dose 4 weeks prior to Screening and for the entire study duration.\n6. Willing and able to maintain a stable diet in Phe and total protein (intact protein and medical food protein) and able to adjust diet through the duration of the study according to the Dietary Management Guidelines\n7. Body weight \\>40 kilograms (kg)\n8. If biologically female of childbearing potential:\n\n   1. Must have a negative serum pregnancy test at Screening and a negative urine pregnancy test by Day 1\n   2. Must practice sexual abstinence, or if involved in any sexual intercourse that could lead to pregnancy, must agree to use 2 highly effective contraceptive methods from Screening until at least 30 days after the last study drug administration\n   3. If taking estrogen- or progesterone-based oral contraceptives, must agree to use 2 other highly effective methods of contraception or must agree to sexual abstinence during the study\n   4. Must refrain from donating ova during the course of the study and for 30 days after the last dose of the study drug.\n9. If a biologically female not of childbearing potential or postmenopausal, defined as follows:\n\n   1. Has had surgical sterilization (hysterectomy, bilateral oophorectomy, or bilateral salpingectomy)\n   2. Has had amenorrhea for minimum of 1 year with confirmation by levels of follicle stimulating hormone testing\n   3. Has not achieved menarche (has not had first menstrual period). If a female achieves menarche during the study, she will need to follow the contraception requirement for females of childbearing potential\n10. If biologically male, must practice sexual abstinence, or if involved in any sexual intercourse that could lead to pregnancy, must agree to use highly effective contraceptive methods from Day 1 until at least 30 days after the last study drug administration and must refrain from donating sperm during the course of the study and for 30 days after the last dose of the study drug NOTE: No restrictions are required for biological males who have undergone a documented vasectomy at least 4 months prior to Screening. If the vasectomy procedure is not documented or was performed less than 4 months prior to Screening, males must follow the same contraception as for non-vasectomized participants.\n11. Participants with psychiatric illness must be well-controlled for the last 6 months prior to the Screening visit and if on medication, on stable medications for the last 3 months.\n12. Capable of giving signed informed consent or parent\u002Flegal guardian to provide informed consent and the participant to give assent and confirm able to comply with study procedures\n\nExclusion Criteria:\n\n* Exclusion Criteria\n\nParticipants will be excluded from the study if any of the following criteria are met:\n\n1. Any acute or uncontrolled chronic medical condition that would prevent the participant from complying with the procedures or place the participant at risk if they participate in the study\n2. Positive for hepatitis B or C or human immunodeficiency virus\n3. Any history of malignancy of any organ system (other than non-melanoma skin cancer or in situ cervical cancer), treated or untreated, within the past 5 years, regardless of whether there is evidence of local recurrence or metastases\n4. Any history of significant liver disease\n5. Any history of cataracts or more than minimal cataracts observed during the Screening ophthalmologic examination. Minimal cataracts are defined as changes similar to lens opacities classification system III (LOCS III), lens grade C1, N1 or P1\n6. Any surgical or medical conditions that may affect study drug absorption, distribution, metabolism, or excretion\n7. Estimated glomerular filtration rate (eGFR) \\\u003C60 mL\u002Fmin\u002F1.73 m2 by 2021 Chronic Kidney Disease Epidemiology Collaboration formula\n8. Participation in another investigational drug trial within 30 days or, if known, 5 half-lives of the investigational drug (whichever is longer). For gene therapy or editing trials, participants must have received the intervention \\>6 months prior to Screening visit and with stable plasma Phe in the past 2 months prior to Screening visit.\n9. Alcohol consumption within 5 days of randomization and\u002For unwilling to limit to 1 alcoholic drink per day until after the 6-month study visit\n10. History of drug\u002Falcohol abuse in the last year\n11. Use of any medications that are inhibitors or inducers of cytochrome P450 (CYP3A4) or inhibitors of the transporter P-glycoprotein (P-gp) within 4 weeks prior to randomization and unwilling and\u002For unable to avoid these medications throughout the treatment duration\n12. Use of any medications that are substrates of breast cancer resistance protein (BCRP), multidrug and toxin extrusion (MATE)1, or MATE2-K within 4 weeks prior to randomization and unwilling and\u002For unable to avoid these medications throughout the treatment duration NOTE: Participants will be permitted to continue with estrogen- or progesterone-based oral contraceptives, but must agree to use 2 other methods of contraception, where at least 1 must be highly effective, or must agree to sexual abstinence during the study.\n13. Current, recent, or suspected active viral or bacterial infection within 2 weeks prior to and during the Screening Period\n14. Unable to tolerate oral medication or have a condition that would interfere with the absorption of JNT-517\n15. Allergy to JNT-517 or any component of the investigational product\n16. Any of the following laboratory values at the Screening visit: -Alanine aminotransferase or aspartate aminotransferase values \\>1.5× the upper limit of normal (ULN)-Total bilirubin ˃ULN unless history of Gilbert Syndrome and then total bilirubin \\>4 milligrams per deciliter (mg\u002FdL) is exclusionary-Hemoglobin \\\u003C11.0 grams per deciliter (g\u002FdL) \\[\\\u003C110.0 grams per liter (g\u002FL)\\]-White blood cell count \\>ULN-Platelets \\\u003C150 × 10\\^9\u002FLiter (L) (\\\u003C150,000\u002Fcubic millimeters \\[mm\\^3\\]).",{"count":142,"type":22},120,[77],"The goal of this Phase 3, randomized study is to assess the safety, efficacy, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adults (18 years of age or older) with PKU. Participants will receive either JNT-517 or placebo and will be blinded to their treatment assignment. Participants will have a 2 in 3 (or approximately 67%) chance of receiving JNT-517 during the first part of the study which will last approximately six weeks. During the second part of the study every participant who continues in the study will receive one of two doses of JNT-517 for an additional 46 weeks. The study requires a screening period of up to 35 days to ensure dietary stabilization and amino acid levels required to meet study eligibility. In total, participation in the study could last for up to 400 days.\n\nParticipants will:\n\nTake 75 mg JNT-517 or 150 mg JNT-517, or a placebo BID (2x per day) for approximately 365 days; Visit the clinic or have a mobile health nurse visit your home for checkups and tests; Collect urine sample at home and bring to clinic on specified days; Keep a food diary 3 days before each study visit",[28],[28,147],"PKU","2026-07-06",{"date":150,"type":33},"2026-07-08",{"date":152,"type":33},"2025-10-20",{"date":154,"type":22},"2028-04-01",{"name":39,"class":40},26,{"id":158,"slug":159,"hasResults":11,"nctId":160,"briefTitle":161,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":164,"enrollmentInfo":165,"targetDuration":4,"studyType":23,"phases":167,"briefSummary":168,"conditions":169,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":170,"lastUpdatePostDateStruct":171,"startDateStruct":172,"completionDateStruct":174,"leadSponsor":175,"locationsCount":41},"100646835","phase-1-gensci144-tablets-phase-i-clinical-trial-100646835","NCT07685210","GenSci144 Tablets Phase I Clinical Trial","A Single-center, Randomized, Double-blind, Placebo-controlled Phase I Clinical Trial in Healthy Adult Participants in China to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single Ascending Oral Doses of GenSci144","Inclusion Criteria:\n\n* Healthy men and women aged 18 to 45, with at least 3 people of the same gender in each group.\n* BMI 19\\~26 kg\u002Fm², men weigh ≥50 kg, women ≥45 kg.\n* Voluntarily sign the informed consent form, fully aware of the research risks and procedures.\n* Use reliable contraception for 3 months after the last dose, no plans for pregnancy or sperm\u002Fegg donation.\n\nExclusion Criteria:\n\n* A family history of sudden death and serious neuropsychiatric disorders.\n* Major underlying conditions like gastrointestinal absorption problems, chronic liver, kidney, heart, and endocrine diseases.\n* Liver function, kidney function with eGFR\\\u003C90, abnormal QTc interval, positive for various infectious diseases.\n* Drug allergies, drug abuse, recent participation in other clinical trials.\n* Drinking alcohol, smoking, taking grapefruit\u002Famino acid supplements, and having a chaotic routine during the screening period.\n* Pregnant or breastfeeding women, people who can't tolerate blood draws or get faint from needles.","45 Years",{"count":166,"type":22},48,[25],"This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels. It was conducted using a randomized, double-blind, placebo-controlled design, primarily to evaluate the drug's safety and tolerability, while also exploring its pharmacokinetic and pharmacodynamic characteristics in the body, providing a basis for subsequent clinical use in the treatment of phenylketonuria.",[28],"2026-06-30",{"date":148,"type":33},{"date":173,"type":33},"2026-06-22",{"date":110,"type":22},{"name":176,"class":40},"Changchun GeneScience Pharmaceutical Co., Ltd.",{"id":178,"slug":179,"hasResults":11,"nctId":180,"briefTitle":181,"officialTitle":182,"acronym":183,"eligibilityCriteria":184,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":185,"targetDuration":4,"studyType":101,"phases":4,"briefSummary":187,"conditions":188,"keywords":189,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":173,"lastUpdatePostDateStruct":200,"startDateStruct":202,"completionDateStruct":204,"leadSponsor":206,"locationsCount":41},"100538324","announcement-of-rare-metabolic-diseases-in-systematic-newborn-screening-the-phenylketonuria-experience-100538324","NCT06289348","Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.","Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.","ANNPHE","Inclusion Criteria:\n\n* Parent or doctor of a child screened for PKU, born during the inclusion phase of the study\n* Family's first exposure to PKU: the PKU child must be either the eldest or the first sibling to be diagnosed with PKU following neonatal screening\n\nExclusion Criteria:\n\n* Failure to master the French language.\n* Child screened is neither the eldest nor the first sibling to be screened.\n* Refusal by the parents.\n* Any other reason which, in the investigator's judgement, would impair the participants' ability to follow the study protocol, or the interpretation of interview data (e.g. the participating parent has a history of serious psychiatric pathology, one of the parents died at the child's birth, Couples in which one of the members suffers from a known decompensated psychiatric pathology at the time of recruitment. Couples where one of the members is under legal protection or a security measure, etc …).",{"count":186,"type":22},80,"The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the systematic neonatal screening (DNS), in terms of the parents' experience, but also on the part of the medical team, in order to improve its process and the support it provides for the announcement of the diagnosis.",[28],[190,191,192,193,194,195,196,197,198,199],"presymptomatic announcement","systematic neonatal screening","rare diseases","genetic disease","phenylketonuria","care relationship","psychological trauma","psychological impact","parent-child bonding","parenthood",{"date":201,"type":33},"2026-06-24",{"date":203,"type":33},"2024-05-07",{"date":205,"type":22},"2027-05-20",{"name":207,"class":113},"Assistance Publique - Hôpitaux de Paris",{"id":209,"slug":210,"hasResults":11,"nctId":211,"briefTitle":212,"officialTitle":213,"acronym":4,"eligibilityCriteria":214,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":215,"targetDuration":4,"studyType":23,"phases":216,"briefSummary":218,"conditions":219,"keywords":220,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":5},"100629670","phase-4-immune-modulation-during-palynziq-treatment-in-adults-impala-100629670","NCT07477691","Immune Modulation During Palynziq® Treatment in Adults (IMPALA)","A Phase 4 Study of Immune Modulation During Palynziq® Treatment in Adults With Phenylketonuria (PKU)","Inclusion Criteria:\n\n* Adults between 18 and 65 years old\n* Have a confirmed diagnosis of phenylketonuria (PKU)\n* Are in generally good health based on medical evaluation\n* Are willing and medically eligible to receive Palynziq and methotrexate (MTX) Cohort A: Have never taken Palynziq before and are willing to start it during the study Cohort B: Have blood \\> 600 μmol\u002FL after taking Palynziq for at least 24 weeks, are on a daily dose of at least 20mg and unable to increase the dose further\n* Agree to use required contraception if they or their partner could become pregnant\n* Are willing to carry two epinephrine devices at all times during Palynziq treatment\n\nExclusion Criteria:\n\n* Pregnant, breastfeeding, planning to become pregnant, planning to father a child, or not using effective birth control if applicable\n* Have a known severe allergy or hypersensitivity reaction to methotrexate (MTX), Palynziq, or other PEG-containing medications\n* Have a serious active infection or a history of severe or recurrent infections\n* Have significant medical conditions that may affect safety or participation (such as serious heart, lung, liver, kidney, immune, neurological, psychiatric, or cancer-related conditions)\n* Have a history of substance or alcohol abuse within the past 12 months\n* Have had an organ transplant or are taking chronic immunosuppressive medications\n* Are currently taking medications that are not allowed in the study, including other PKU treatments besides Palynziq\n* Are using, or plan to use, injectable PEG-containing medications other than Palynziq during the study\n* Have major surgery planned during the study participation period\n* Are currently participating in another clinical study involving Palynziq\n* In the opinion of the study doctor, are not a suitable candidate for the study or may have difficulty complying with study requirements",{"count":5,"type":22},[217],"PHASE4","Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.",[28],[147,28,221,222,223,224,225,226,227,228,229,230],"Pegvaliase","Palynziq","Methotrexate","Immune Response","Safety","Immune Modulation","BMN 165-401","Hyperphenylalaninemia","Enzyme Substitution Therapy","Pharmacologic Immunosuppression","2026-06-16",{"date":233,"type":33},"2026-06-17",{"date":235,"type":33},"2026-05-29",{"date":237,"type":22},"2027-09-30",{"name":239,"class":40},"BioMarin Pharmaceutical",{"id":241,"slug":242,"hasResults":11,"nctId":243,"briefTitle":244,"officialTitle":245,"acronym":4,"eligibilityCriteria":246,"healthyVolunteers":16,"sex":247,"minAge":248,"maxAge":4,"enrollmentInfo":249,"targetDuration":4,"studyType":23,"phases":251,"briefSummary":253,"conditions":254,"keywords":256,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":262,"lastUpdatePostDateStruct":263,"startDateStruct":265,"completionDateStruct":267,"leadSponsor":269,"locationsCount":41},"100183178","educational-social-support-and-nutritional-interventions-and-their-cumulative-effect-on-pregnancy-outcomes-and-quality-of-life-in-teen-and-adult-women-with-phenylketonuria-100183178","NCT01659749","Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria","Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD).","Inclusion Criteria:\n\n* Diagnosed with PKU or other aminoacidopathy, female, age 11 or older, able to provide informed consent\n\nExclusion Criteria:\n\n* Those not fitting the inclusion criteria\n\nInclusion Criteria for healthy controls\n\nIndividuals eligible to participate in this study must meet all of the following criteria:\n\n* Adult camp counselors or staff determined to be in good health.\n* Not diagnosed with PKU, MSUD or other hereditary metabolic disorder\n* Willing and able to provide written informed consent\n* Willing and able to comply with relevant camp guidelines and study procedures","FEMALE","11 Years",{"count":250,"type":22},200,[252],"NA","The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended Metabolic Camp and compare their results to other women with PKU who have not attended the Metabolic Camp.",[255,28],"Pregnancy",[257,258,259,260,261],"Genetics","Metabolic","Nutrition","Maternal PKU","Phenylketonuria (PKU)","2026-05-04",{"date":264,"type":33},"2026-05-07",{"date":266,"type":33},"1995-06",{"date":268,"type":22},"2037-07",{"name":270,"class":113},"Emory University",{"id":272,"slug":273,"hasResults":11,"nctId":274,"briefTitle":275,"officialTitle":275,"acronym":4,"eligibilityCriteria":276,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":277,"targetDuration":4,"studyType":23,"phases":278,"briefSummary":279,"conditions":280,"keywords":281,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":285,"lastUpdatePostDateStruct":286,"startDateStruct":288,"completionDateStruct":289,"leadSponsor":291,"locationsCount":41},"100633455","effect-of-different-meal-types-given-before-exercise-on-plasma-amino-acid-levels-and-metabolic-control-parameters-in-classical-phenylketonuria-patients-undergoing-aerobic-and-resistance-exercises-100633455","NCT07526909","Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises","Inclusion Criteria:\n\n* Be over 18 years old,\n* Having a classic FKU diagnosis,\n* Not being actively engaged in sports,\n* Not having any other existing diseases,\n* Not having an active infection,\n* Have a BMI in the range of 20-28 kg\u002Fm2 within the last 3 months,\n* Agreeing to consume test meals and provide blood samples for parameters that will evaluate plasma amino acid levels as part of the research\n* Being willing to participate in this study\n\nExclusion Criteria:\n\n* Presence of a chronic disease accompanying FKU disease (endocrine, etc.)\n* The individual with FKU has mental retardation or is deemed unfit for work based on psychomotor assessment,\n* Recent weight loss, history of hospitalisation, a past infection, or a diagnosed illness\n* Use of drugs or alcohol that alter protein and energy metabolism (e.g., corticosteroids, etc.)\n* Pregnancy status\n* Smoking habits The considerations to be taken into account when planning the day\u002Fdate of the test are as follows.\n* Having engaged in heavy exercise or sports within 24 hours before the application of test diets,\n* Being in the menstrual period for female patients.",{"count":89,"type":22},[252],"This study will be the first in the literature to evaluate the relationship between aerobic and resistance exercises, plasma amino acid levels, metabolic control of patients, and the metabolic response to exercise with different types of meals in patients with Phenylketonuria (PKU). In patients with phenylketonuria, the aim is to determine which pre-exercise dietary recommendations are more physiologically appropriate and ideal for achieving good metabolic control.\n\nIn the literature, there are very few studies examining the effects of exercise on plasma amino acid levels and metabolic parameters in PKU patients.",[28],[28,282,283,284],"Phenylalanine","Low-protein diet","Exercise","2026-04-13",{"date":287,"type":33},"2026-04-16",{"date":108,"type":33},{"date":290,"type":22},"2026-07-15",{"name":292,"class":113},"Hacettepe University",{"id":294,"slug":295,"hasResults":11,"nctId":296,"briefTitle":297,"officialTitle":298,"acronym":4,"eligibilityCriteria":299,"healthyVolunteers":11,"sex":17,"minAge":97,"maxAge":4,"enrollmentInfo":300,"targetDuration":4,"studyType":23,"phases":302,"briefSummary":303,"conditions":304,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":306,"lastUpdatePostDateStruct":307,"startDateStruct":309,"completionDateStruct":311,"leadSponsor":313,"locationsCount":41},"100588448","gmp-powdered-substitutes-in-pku-and-tyr-100588448","NCT06941532","GMP Powdered Substitutes in PKU and TYR","Evaluating the Adherence, Tolerance, Acceptability and Safety of New GMP-based Powdered Protein Substitutes in PKU and TYR: a Case Study Series","Inclusion Criteria:\n\n* Male or female\n* Over 3 years of age\n* Patients diagnosed with any phenotype of PKU characterised by hyperphenylalaninaemia or patients diagnosed with tyrosinaemia\n* Have been compliant in taking at least one protein substitute, providing at least 15g protein equivalents, for at least 1 month prior to trial commencement\n* Have a prescribed daily phenylalanine or phenylalanine and tyrosine allowance for PKU or TYR respectively\n* Written or electronic informed consent from patient, and\u002For from parent\u002Fcaregiver if applicable\n* Participants who are anticipated to be able to take at least one sachet of GMP Product per day\n\nExclusion Criteria:\n\n* Pregnant or lactating\n* Requiring parenteral nutrition\n* Major hepatic or renal dysfunction\n* Participation in other studies within 1 month prior to entry of this study\n* Allergy to any of the study product ingredients\n* Investigator concern around willingness\u002Fability of patient or parent\u002Fcaregiver to comply with protocol requirement",{"count":301,"type":22},40,[252],"Four new GMP-based protein substitutes have been developed to support the dietary management of PKU and TYR. These products are powdered protein substitutes, low in phenylalanine and low in phenylalanine and tyrosine respectively, with a mix of glycomacropeptide (GMP), essential and non-essential amino acids, carbohydrates, fibres, fats (including DHA) and micronutrients. The proteins in these new protein substitutes are based on GMP, a peptide isolated from milk during cheese manufacturing and the only known naturally derived protein source low in phenylalanine and tyrosine. The GMP is supplemented with other amino acids which are naturally low or not present in GMP, as well as carbohydrates, fats, fibre and micronutrients. Studies to date have illustrated that PKU patients who replace their regular phenylalanine-free amino acid-based formula with GMP-based foods may have better diet compliance and prefer the taste whilst maintaining metabolic control.\n\nThis series of case-studies aims to evaluate the gastrointestinal tolerance, acceptability, compliance, and safety of these four GMP based protein substitutes in both adults and children over 3 years. These case studies will last 29 days in total, including a 1-day baseline period followed by a 28-day intervention period. The case studies will be conducted across multiple specialist metabolic centres in the UK. A series of case studies is undertaken due to the rarity of these conditions, the diversity of patient types and the difficulty in recruiting these patients to trials.",[28,305],"Tyrosinemia","2025-12-18",{"date":308,"type":33},"2025-12-19",{"date":310,"type":33},"2025-05-20",{"date":312,"type":22},"2026-12-31",{"name":314,"class":40},"Nutricia UK Ltd"]