[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"phenylketonuria-pku\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:phenylketonuria-pku":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,44,67,94,118,145,171,193,214],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100644796","phase-1-a-clinical-study-on-the-safety-and-tolerability-of-pl54-injection-in-adult-patients-with-phenylketonuria-pku-100644796",false,"NCT07672756","A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)","A Phase I Multicenter Open-label Dose-escalation Study of Safety, Tolerability, PK\u002FPD and Immunogenicity of Single\u002FMultiple Subcutaneous PL54 Injection in Adult PKU Patients","Key Inclusion Criteria:\n\n* Adult patients aged 18 to 55 years, inclusive, regardless of sex.\n* Subjects with a prior diagnosis of phenylketonuria (PKU) meeting the following criteria:\n\n  * Blood Phe concentration ≥600 µmol\u002FL at screening;\n  * Average blood Phe concentration ≥600 μmol\u002FL within the 12 months prior to screening (with at least two test results available);\n  * Genetic test report confirming the presence of phenylalanine hydroxylase (PAH) gene defects.\n* Ability to maintain dietary stability from 3 days prior to screening through the end of the trial.\n* Subjects (including partners) capable of practicing effective contraception during the trial period, with no plans for conception within 3 months after trial completion.\n* Voluntarily sign the informed consent form and, in the investigator's judgment, able to comply with all study requirements.\n\nKey Exclusion Criteria:\n\n* Known hypersensitivity to PL54 injection or any of its excipients.\n* Medical conditions or history assessed by the investigator that may increase the risk of severe allergic reactions (e.g., acute exacerbation of allergic asthma, atopic constitution, history of anaphylaxis, etc.).\n* Use of any medication for PKU (including large neutral amino acids) within 14 days prior to study drug administration or within 5 half-lives of the drug (whichever is longer).\n* Use or planned use of any injectable medication containing polyethylene glycol (PEG) (except the investigational drug) within 3 months prior to screening or during the study period, including medroxyprogesterone acetate injection.\n* Prior use of Pegvaliase (PALYNZIQ®).\n* History of any of the following manifestations associated with prior PEG-containing product use: systemic symptoms (e.g., respiratory or gastrointestinal symptoms, hypotension, angioedema, allergic reactions). The investigator will determine eligibility based on the severity of previous symptoms.\n* Clinically significant abnormal vital signs, physical examination, laboratory tests, or other relevant findings at screening, deemed by the investigator to render the subject unsuitable for enrollment.\n* Significant medical history of immunological, cardiovascular, respiratory, gastrointestinal, endocrine, renal, hematological, neurological, psychiatric, or malignant diseases (except basal cell carcinoma of the skin or carcinoma in situ of the cervix that has been excised with no evidence of recurrence) assessed by the investigator prior to screening.\n* Stable use of immunosuppressants (e.g., cyclosporine, azathioprine) within 4 weeks prior to screening, with inability to discontinue use during the study period.\n* Vaccination within 4 weeks prior to screening or planned vaccination during the study period.\n* Positive serology for Treponema pallidum-specific antibodies, human immunodeficiency virus (HIV) antibodies, hepatitis C virus (HCV) antibodies, or hepatitis B virus (HBV) surface antigen.\n* Serum creatinine ratio \\> 1.5 × upper limit of normal (ULN).\n* Alanine aminotransferase (ALT) \\> 2 × ULN.\n* Pregnant or breastfeeding women.\n* Participation in any investigational drug trial and receipt of an investigational product within 3 months prior to screening.\n* Prior use of any gene therapy for phenylketonuria (including participation in clinical studies).\n* Any other condition deemed by the investigator to preclude participation in the trial.","ALL","18 Years","55 Years",{"count":20,"type":21},48,"ESTIMATED","INTERVENTIONAL",[24],"PHASE1","The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years. The key questions it aims to answer include:\n\nHow safe and tolerable is PL54 in PKU patients following single and multiple administrations?\n\nResearchers will compare the safety and tolerability profiles between single and multiple dosing regimens to assess PL54.\n\nParticipants will be required to:\n\nPhase Ia (Single Administration):\n\nReceive a single subcutaneous injection of PL54 based on body weight. Undergo a 28-day observation period post-injection. Visit the clinic for assessments on: D1 (administration day), D2, D7, D8, D10, D15, D22, and D29.\n\nPhase Ib (Multiple Administrations):\n\nReceive subcutaneous injections of PL54 every 7 days (4 doses total) based on body weight. Undergo a 35-day observation period after the last injection. Visit the clinic for assessments on: D1 (first administration), D3, D8, D15, D21, D22, D29, D36, D43, and D57\n\nData to be recorded include:\n\nIncidence, severity, seriousness, relationship to PL54 treatment, duration, and outcome of adverse events (AEs).\n\nChange from baseline in blood phenylalanine (Phe) concentration.",[27],"Phenylketonuria (PKU)",[29,30],"Phenylketonuria","PKU","RECRUITING","2026-06-28",{"date":34,"type":35},"2026-07-01","ACTUAL",{"date":37,"type":35},"2025-07-20",{"date":39,"type":21},"2027-08-01",{"name":41,"class":42},"Chongqing Peg-Bio Biopharm Co., Ltd.","INDUSTRY",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":54,"briefSummary":56,"conditions":57,"keywords":4,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":63,"leadSponsor":65,"locationsCount":43},"100644644","pku-microtablets-case-studies-100644644","NCT07671859","PKU Microtablets Case Studies","Evaluating the Adherence, Tolerance, Acceptability and Safety of a New Amino Acid Based, Microtablet Protein Substitute in PKU: a Case Study Series","Inclusion Criteria:\n\n* Male or female\n* Over 4 years of age\n* Patients diagnosed with any phenotype of PKU characterised by hyperphenylalaninaemia\n* Have been compliant in taking at least one protein substitute, providing at least 20g protein equivalent, for at least 1 month prior to trial commencement\n* Have a prescribed daily phenylalanine allowance for PKU\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 20g protein equivalent of the case study 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\n* Treatment with Sapropterin dihydrochloride for less than 6 months","4 Years",{"count":53,"type":21},20,[55],"NA","Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume. Despite recent advancements related to the taste, scent and texture of commercially available protein substitutes, a proportion of PKU patients choose to consume tablet-based protein substitutes. Protein substitutes in tablet format may help overcome taste, scent and texture concerns associated with powdered and liquid preparations. Indeed, previous research has shown that protein substitute tablets are an effective strategy to manage PKU in children, teenagers and adults. Nonetheless, the daily burden and discipline required often impedes compliance, especially alongside the restrictive low-protein diet. Achieving compliance with multivitamin supplements when given alongside protein substitutes therefore becomes especially challenging. This is particularly true for adolescent, adult and maternal populations.\n\nPKU Microtablets have recently been developed. PKU Microtablets are a new phenylalanine-free tablet protein substitute combined with vitamins, minerals and trace elements. As patient acceptability is fundamental to the successful use of any protein substitute, investigation is needed to assess the compliance, tolerance and acceptability of PKU Microtablets as part of a low phenylalanine dietary regimen in PKU patients.\n\nThis series of case-studies aims to evaluate the gastrointestinal tolerance, acceptability, compliance, and safety of this protein substitute in both adults and children from 4 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.",[27],"NOT_YET_RECRUITING","2026-06-23",{"date":61,"type":35},"2026-06-26",{"date":34,"type":21},{"date":64,"type":21},"2027-07-01",{"name":66,"class":42},"Nutricia UK Ltd",{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":72,"acronym":73,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":75,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":78,"conditions":79,"keywords":80,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":93},"100630228","multiomics-approach-in-adult-patients-with-phenylketonuria-100630228","NCT07484945","Multiomics Approach in Adult Patients With Phenylketonuria","Relationships Between the Genome and Metabolomic and Phenomic Signatures in Adult Patients With Early-Treated Phenylketonuria: a Multicenter Cross-sectional Study","GENOPHEN","Inclusion Criteria:\n\n* PKU patients over the age of 18,\n* diagnosed through the newborn screening program,\n* patients who participated in the final visit of the ECOPHEN study,\n* affiliation with a health insurance plan,\n* informed consent dated and signed by patients for DNA analysis (saliva sample)\n\nExclusion Criteria:\n\n* Patients whose PKU diagnosis was not detected during neonatal screening,\n* Patients who have not signed a dated informed consent form,\n* Patients who are unable to provide a saliva sample.",{"count":76,"type":21},149,"OBSERVATIONAL","The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.",[27],[81,82],"saliva","genetics","2026-04-29",{"date":85,"type":35},"2026-05-06",{"date":87,"type":35},"2026-03-23",{"date":89,"type":21},"2028-03",{"name":91,"class":92},"University Hospital, Tours","OTHER",15,{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":4,"eligibilityCriteria":100,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":4,"enrollmentInfo":101,"targetDuration":4,"studyType":22,"phases":103,"briefSummary":105,"conditions":106,"keywords":107,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":108,"lastUpdatePostDateStruct":109,"startDateStruct":111,"completionDateStruct":113,"leadSponsor":115,"locationsCount":117},"100564357","phase-3-a-long-term-study-of-jnt-517-in-participants-with-phenylketonuria-100564357","NCT06628128","A Long-Term Study of JNT-517 in Participants With Phenylketonuria","An Open-Label Study to Evaluate the Long-Term Safety of JNT-517 in Participants With Phenylketonuria","Key Inclusion Criteria:\n\n1. Diagnosis of phenylketonuria (ie, PAH deficiency) by either molecular testing or biochemical criteria consistent with the applicable regional guidelines.\n2. Participants 4 years of age and older, inclusive, at time of Screening.\n3. Not on pegvaliase within 4 weeks of Screening.\n4. Not on sepiapterin within 2 weeks of Screening.\n5. If on sapropterin or large neutral amino acids at Screening, must be on a stable dose for 4 weeks prior to Screening.\n6. Willing and able to maintain a diet consistent in Phe content from the Screening period through the duration of the study, unless otherwise directed by a dietician as allowed in the protocol.\n7. Body weight ≥ 12.5 kg.\n8. If 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 different contraceptive methods, where at least 1 method must be highly effective, from Screening until at least 30 days after the last study drug administration.\n   3. Must refrain from donating ova during the course of the study and for 30 days after the last dose of the study drug.\n9. Is a 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 male, must practice sexual abstinence, or if involved in any sexual intercourse that could lead to pregnancy, must agree to use 2 different contraceptive methods, where at least 1 method must be highly effective, 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.\n\n    Note: No restrictions are required for 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. Capable of giving signed informed consent, or parent\u002Flegal guardian to provide informed consent and pediatric participant to give assent, and be able to comply with study procedures.\n12. Participants with psychiatric illness must be well-controlled for the last 3 months prior to screening visit and, if on medication, on stable medications for the last 3 months.\n\nKey Exclusion Criteria:\n\n1. Participation in this study is not considered safe and\u002For feasible in the opinion of the Investigator.\n2. Participants have not completed a previous JNT-517 study and are eligible for another active JNT-517 trial at the site, unless approval is obtained from the medical monitor.\n3. Any acute or 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.\n4. Positive for hepatitis B or C or human immunodeficiency virus.\n5. Any history of significant liver disease.\n6. Any history of cataracts or more than minimal cataracts observed during the Screening ophthalmologic examination.\n7. Any surgical or medical conditions that may affect study drug absorption, distribution, metabolism, or excretion.\n8. Estimated glomerular filtration rate \\\u003C 60 milliliters per minute per 1.73 square meters (mL\u002Fmin\u002F1.73 m\\^2) by 2021 Chronic Kidney Disease Epidemiology Collaboration formula (participants aged 17 years or greater) or by Schwartz formula (participants aged 4 to 16 years of age).\n9. History of drug or alcohol abuse in the last year.\n10. Use of any medication that are inhibitors or inducers of cytochrome P450 (CYP)3A4 or inhibitors of the transporter P glycoprotein (P-gp) within 4 weeks prior to the first dose of study drug and unwilling and\u002For unable to avoid these medications throughout the treatment duration.\n11. Use of any medications that are a substrate of breast cancer resistance protein (BCRP), multidrug and toxin extrusion (MATE)1, MATE2-K, organic anion transporter 3 (OAT3), or CYP3A4 within 4 weeks prior to the first dose of study drug and unwilling and\u002For unable to avoid these medications throughout the treatment duration (Appendix A). CYP3A4 substrates may be allowed if reduction in exposure is not expected to impact safety of the participant after consultation with the Medical Monitor.\n\n    NOTE: Participants of childbearing potential 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.\n12. Current, recent, or suspected infection within 2 weeks of Screening of Severe Acute Respiratory Syndrome Coronavirus 2\u002FCoronavirus Disease 2019 (SARS-CoV-2\u002FCOVID-19).\n13. Unable to tolerate oral medication or inability to swallow tablets.\n14. Allergy to JNT-517 or any component of the investigational product.\n15. Any of the following laboratory values at the Screening visit:\n\n    1. Alanine aminotransferase or aspartate aminotransferase values ˃ 1.5 x the upper limit of normal (ULN).\n    2. Total bilirubin ˃ULN unless history of Gilbert Syndrome and then total bilirubin \\>4 milligrams per deciliter \\[mg\u002FdL\\] is exclusionary.\n    3. Hemoglobin ˂10.0 g\u002FdL (˂100.0 grams per liter \\[g\u002FL\\])\n    4. White blood cell count ˃1 x ULN\n    5. Platelet count ˂150 × 109\u002FL (˂150,000\u002Fcubic millimeters\\[mm\\^3\\])\n16. Participation in another investigational drug trial within 30 days (other than for JNT-517) or, if known 5 half-lives of investigational drug (whichever is longer).",{"count":102,"type":21},240,[104],"PHASE3","The goal of this Phase 3, open-label study is to evaluate the long-term safety of JNT-517 in pediatric and adult participants with Phenylketonuria (PKU) after completion of either Study JNT517-101 (NCT05781399) or JNT517-201 (NCT06637514) as well as participants who have not participated in a prior JNT-517 study. In this trial, all participants will receive JNT-517 using age- and weight-banded dosing as outlined in the protocol, regardless of any dose received in a previous study.",[27],[29,30],"2026-04-27",{"date":110,"type":35},"2026-05-01",{"date":112,"type":35},"2025-08-11",{"date":114,"type":21},"2028-02-01",{"name":116,"class":42},"Otsuka Pharmaceutical Development & Commercialization, Inc.",12,{"id":119,"slug":120,"hasResults":11,"nctId":121,"briefTitle":122,"officialTitle":123,"acronym":124,"eligibilityCriteria":125,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":126,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":128,"conditions":129,"keywords":130,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":136,"startDateStruct":138,"completionDateStruct":140,"leadSponsor":142,"locationsCount":144},"100501778","a-long-term-post-marketing-safety-study-of-palynziq-in-patients-with-pku-palace-100501778","NCT05813678","A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)","A Multi-Center, Observational Study to Evaluate the Long-Term Safety of Subcutaneous Injections of Palynziq® (Pegvaliase) in Subjects With Phenylketonuria","PALace","Inclusion Criteria:\n\n* Documented diagnosis of PKU per local standard of care\n* Currently receiving or planned to receive pegvaliase treatment within 30 days after the date of enrollment, including subjects who previously received pegvaliase as part of the clinical development program and have completed study participation.\n* Subject (or legally authorized representative) is willing and able to provide written informed consent after the nature of the study has been explained and prior to any data collection.\n\nExclusion Criteria:\n\n* Subject has any kind of disorder that, in the opinion of the investigator, may compromise the ability of the subject to give written informed consent and\u002For comply with any aspect of the study.\n* Currently participating in an interventional study of any investigational product, device, or procedure\n* Previously enrolled in this study (eg, subjects who have been withdrawn from the study and wish to participate again at a later date)\n* German subjects \\\u003C16 years if age",{"count":127,"type":21},450,"This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the additional risk minimization measures (aRMMs) (European Union (EU) only) in subjects receiving pegvaliase for the treatment of PKU. Subjects for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment (incident-users) or have previously started treatment with pegvaliase at the date of enrollment (prevalent-users) are eligible for participation in this study.",[27],[131,132,133,134,30,29,135],"Observational","Safety Study","Pegvaliase","Palynziq","Phase 4",{"date":137,"type":35},"2026-03-25",{"date":139,"type":35},"2022-06-06",{"date":141,"type":21},"2033-11-01",{"name":143,"class":42},"BioMarin Pharmaceutical",26,{"id":146,"slug":147,"hasResults":11,"nctId":148,"briefTitle":149,"officialTitle":150,"acronym":4,"eligibilityCriteria":151,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":152,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":154,"conditions":155,"keywords":156,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":162,"lastUpdatePostDateStruct":163,"startDateStruct":165,"completionDateStruct":167,"leadSponsor":169,"locationsCount":170},"100539545","a-long-term-post-marketing-study-of-immune-response-in-patients-receiving-palynziq-treatment-for-pku-palisade-100539545","NCT06305234","A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)","A Multi-Center, Prospective, Longitudinal, Study Evaluating Immunologic, Inflammatory, and Laboratory Parameters Associated With Long-Term Palynziq® (Pegvaliase) Treatment in Subjects With Phenylketonuria (PKU) in the United States","Inclusion Criteria:\n\n* Subjects enrolled at US sites participating in the 165-501 study.\n\nExclusion Criteria:\n\n* Legal incapacity or limited legal capacity without legal guardian representation.\n* Subject is unable or unwilling to provide informed consent for the additional interventional burden of the study (blood sampling).",{"count":153,"type":21},200,"This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq treatment in subjects with phenylketonuria (PKU) in the United States (US). Subjects in the US for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment in Study 165-501 (incident-users) or who have previously started treatment with pegvaliase at the date of enrollment in Study 165-501 (prevalent-users) are eligible for participation in Study 165-503.",[27],[30,29,134,157,158,159,160,161],"pegvaliase","observational","safety study","immunogenicity assessment","inflammatory assessment","2026-03-20",{"date":164,"type":35},"2026-03-24",{"date":166,"type":35},"2024-01-20",{"date":168,"type":21},"2033-11-18",{"name":143,"class":42},11,{"id":172,"slug":173,"hasResults":11,"nctId":174,"briefTitle":175,"officialTitle":175,"acronym":176,"eligibilityCriteria":177,"healthyVolunteers":178,"sex":16,"minAge":17,"maxAge":179,"enrollmentInfo":180,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":182,"conditions":183,"keywords":4,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":184,"lastUpdatePostDateStruct":185,"startDateStruct":187,"completionDateStruct":189,"leadSponsor":191,"locationsCount":4},"100624159","the-psychosocial-functioning-of-adults-with-phenylketonuria-100624159","NCT07406009","The Psychosocial Functioning of Adults With Phenylketonuria.","CoMet-PCU","Inclusion Criteria:\n\nPatients :\n\n* Age ≥ 18 years and \\\u003C 59 years (age limit for ASEBA questionnaire)\n* Person being monitored for PKU \u002F HMP\n* Relative living with the person\n* Person who has received full information on the organization of the research and has not objected to the use of this data\n* Compulsory membership of a social security scheme\n\nRelatives:\n\n* Age ≥ 18 years\n* Person who has received full information on the organization of the research and has not objected to the use of this data\n* Compulsory membership of a social security scheme\n\nExclusion Criteria:\n\n* Refusal or linguistic, physical or psychological incapacity to to participate in the study\n* Subjects under court protection\n* Subjects under guardianship or curatorship",true,"59 Years",{"count":181,"type":21},30,"Current recommendations are to maintain Phe levels \\\u003C 360 µmol\u002FL throughout life (US consensus) or \\\u003C 600 µmol\u002FL from the age of 12 (European consensus). Nevertheless, these recommendations do not take into account the individuality of each PKU patient who, in reality, reacts differently to Phe levels, with some patients with high levels (\\> 1200 µmol\u002FL) escaping the neurological consequences of high Phe levels without this being well understood (OJRD 2018; 13: 149. Can untreated PKU patients escape from intellectual disability? A systematic review). It is therefore unclear what blood levels of phenylalanine are required during adolescence and adulthood to maintain an optimal cognitive, emotional and neurophysiological state in individual PKU patients, depending on their personal responsiveness to Phe.",[27],"2026-02-05",{"date":186,"type":35},"2026-02-12",{"date":188,"type":21},"2026-01-15",{"date":190,"type":21},"2027-06-15",{"name":192,"class":92},"Central Hospital, Nancy, France",{"id":194,"slug":195,"hasResults":11,"nctId":196,"briefTitle":197,"officialTitle":198,"acronym":4,"eligibilityCriteria":199,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":200,"targetDuration":4,"studyType":22,"phases":201,"briefSummary":203,"conditions":204,"keywords":4,"overallStatus":58,"whyStopped":4,"lastUpdateSubmitDate":205,"lastUpdatePostDateStruct":206,"startDateStruct":208,"completionDateStruct":210,"leadSponsor":212,"locationsCount":43},"100617460","early-phase-1-to-evaluate-the-safety-and-efficacy-of-gs1168-injection-in-adult-phenylketonuria-100617460","NCT07318909","To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria","A Clinical Exploration Study of Adeno-Associated Virus Vector Expressing Human Phenylalanine Hydroxylase Gene in Adult Classical Phenylketonuria","Inclusion Criteria:\n\n1. Understand the purpose and risks of the study and voluntarily sign Informed Consent Forms (ICF).\n2. Male or female, aged 18-55 years.\n3. Diagnosis of PKU due to PAH mutation, and be inadequately controlled with current therapy (e.g., dietary management) in the judgement of the investigator.\n4. Intolerant of unresponsive to available treatment such as Kuvan or Palynziq, and have come off the medication for at least 28 days prior to signing the ICF.\n5. Ability and willingness to maintain dietary protein intake consistent with baseline\n6. Male and female subjects of childbearing potential must agree to use effective contraception methods from signing ICF until at least 52 weeks after GS1168 infusion. Female subjects must not be breastfeeding.\n7. Agree to avoid alcohol consumption from 30 days prior to GS1168 infusion until at least 52 weeks after infusion.\n8. Ability to communicate well with the Investigator and to understand and comply with the requirements of the study.\n\nExclusion Criteria:\n\n1. Diagnosis of PKU due to other gene mutations.\n2. Body weight ≥100 kg or Body Mass Index (BMI) ≥30 kg\u002Fm² at screening.\n3. Presence of anti-AAV8 neutralizing antibody.\n4. Abnormal liver function tests at screening:\n\n   * ALT or AST \\>1.25 × Upper Limit of Normal (ULN)\n   * GGT \\>1.25 × ULN\n   * Total Bilirubin \\>1.5 × ULN\n5. Abnormal laboratory findings at screening:\n\n   * Hemoglobin \\\u003C9 g\u002FdL\n   * Neutrophil count \\\u003C1.0 × 10⁹\u002FL\n   * Platelet count \\\u003C100 × 10⁹\u002FL\n   * Serum Creatinine ≥1.5 mg\u002FdL (133 μmol\u002FL)\n   * Glycated Hemoglobin (HbA1c) \\>6% or Fasting Blood Glucose \\>6.1 mmol\u002FL\n6. Active or occult hepatitis B virus (HBV) infection, active hepatitis C virus (HCV) infection, positive Human Immunodeficiency Virus (HIV) antibodies and positive syphilis test.\n7. Any severe conditions of respiratory, cardiovascular, gastrointestinal, renal, neurological, endocrine, immunological, hematological, psychiatric, etc.\n8. History of malignancy.\n9. Any other condition that, in the opinion of the Investigator, may affect subject compliance or render the subject unsuitable for participation in this trial.",{"count":5,"type":21},[202],"EARLY_PHASE1","This study is a single-arm, open-label, dose-escalation, exploratory study to evaluate the safety, tolerability, and efficacy of a single administration of GS1168 Injection in Chinese adult phenylketonuria (PKU) with PAH mutation.",[27],"2025-12-19",{"date":207,"type":35},"2026-01-06",{"date":209,"type":21},"2025-12-31",{"date":211,"type":21},"2031-08-30",{"name":213,"class":42},"Gritgen Therapeutics Co., Ltd.",{"id":215,"slug":216,"hasResults":11,"nctId":217,"briefTitle":218,"officialTitle":219,"acronym":4,"eligibilityCriteria":220,"healthyVolunteers":178,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":221,"targetDuration":4,"studyType":77,"phases":4,"briefSummary":223,"conditions":224,"keywords":225,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":233,"lastUpdatePostDateStruct":234,"startDateStruct":236,"completionDateStruct":238,"leadSponsor":240,"locationsCount":43},"100590576","brain-aging-in-phenylketonuria-100590576","NCT06969209","Brain Aging in Phenylketonuria","Brain Aging in Patients With Phenylketonuria","Patients with PKU\n\nInclusion Criteria:\n\n* Participation in PICO-Study and\u002For:\n* PKU diagnosed after a positive newborn screening\n* Treatment with Phe-restricted diet starting within the first 30 days of life\n* Age ≥18 years\n* Written informed consent\n\nExclusion Criteria:\n\n* Patients with PKU not following a Phe-restricted diet within 6 months before the study\n* Phe concentration above 1600 µmol\u002FL within 6 months before the study\n* Concomitant disease states suspected to significantly affect primary or secondary outcomes\n* Women who are pregnant or who are breast feeding\n* Conditions interfering with MRI such as magnetic (metallic) particles in the skull or brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or permanent retainers\n\nHealthy controls\n\nInclusion Criteria:\n\n* Age ≥18 years\n* Written informed consent\n\nExclusion Criteria:\n\n* Concomitant disease states suspected to significantly affect primary or secondary outcomes\n* Women who are pregnant or who are breast feeding\n* Inability to follow the procedures of the study, e. g. due to language problems (lack of fluency in German or French), psychological disorders, dementia, etc. of the participant\n* Conditions interfering with MRI such as magnetic (metallic) particles in the skull or brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or permanent retainers",{"count":222,"type":21},90,"Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional deficiencies that could lead to growth impairments or intellectual decline. Since the introduction of neonatal PKU screening in the mid-1960s, early treatment during childhood with a low phenylalanine diet or pharmacological interventions have been effective and prevent severe long-term sequelae. However, concerns persist that insufficient treatment during adulthood may cause subtle and, over time, possibly increasing cognitive and brain alterations. Recently, the first generation of early-treated patients has reached mid-adulthood. Hence, there is an urgent need to understand how PKU and metabolic control impact cognitive and brain aging and vice versa. The investigators preliminary cross-sectional findings suggest that brain aging trajectories may diverge significantly between patients with PKU and healthy controls in mid-adulthood. Until now, no comprehensive research has longitudinally tracked brain aging in patients with PKU through MRI markers and their correlation with cognition, metabolic control, and cardiometabolic risk factors. The \"brain age\" approach enables the identification of individual health characteristics and risk patterns for age-related changes. The evaluation of brain age in addition to the chronological age allows for the development and monitoring of personalized neuroprotective treatments and interventions. Advancing the investigators understanding of disease progression during aging in patients with PKU and identifying strategies for preventing potential harm later in life is of utmost importance for patients' well-being and clinical practice and, through this, follows the WHO's brain health plan.\n\nStudy aims: This longitudinal study will, for the first time, investigate the trajectory of brain aging relative to chronological aging across early and middle adulthood in individuals with PKU compared to healthy controls. Data collected in the investigators previous SNSF study (Nr 192706; 184453) will serve as baseline data and allow the examination of brain health by means of brain age modeling. The association between brain age trajectories and cognitive performance, metabolic control, and cardiometabolic risk factors will be studied to disentangle risk patterns of accelerated brain aging in patients with a rare disease.\n\nRelevance of the study: This study will show whether and how the brain aging trajectory is accelerated in patients with PKU and will determine the functional relevance of brain aging with respect to cognitive performance and metabolic control (i.e., phenylalanine levels). This is one of the first studies to closely examine long-term brain and cognitive changes in PKU during early and mid-adulthood. Its findings could provide valuable insights into the long-term effects of PKU on brain structure and aging processes. Furthermore, the results may support the development of future treatment strategies and improve the quality of life for adults with PKU.",[27],[27,226,227,228,229,230,231,232],"Brain aging","Brain age gap","Cognition","Magnetic resonance imaging","Metabolic control","Rare disease","Longitudinal study","2025-05-08",{"date":235,"type":35},"2025-05-13",{"date":237,"type":35},"2025-01-13",{"date":239,"type":21},"2030-08-30",{"name":241,"class":92},"Insel Gruppe AG, University Hospital Bern"]