[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"phenylketonurias\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:phenylketonurias":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,9,0,[8,42,65,89,119,139,168,192,213],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100520826","early-phase-1-safety-and-efficacy-study-of-nggt002-in-pku-adult-subjects-100520826",false,"NCT06061614","Safety and Efficacy Study of NGGT002 in PKU Adult Subjects","A Clinical Study for the Safety and Efficacy of IV Infusion of NGGT002 in the Treatment of Phenylketonuria","Inclusion Criteria:\n\n* Voluntarily sign informed consent form;\n* Male and female subjects with diagnosis of PKU caused by confirmed phenylalanine hydroxylase(PAH) mutation according to the \"Clinical Practice Guidelines for Phenylketonuria, 2020 Edition\";\n* Age ≥ 18 years;\n* Blood phenylalanine (Phe) concentration ≥ 600 μmol\u002FL at least once within 2 years prior to screening, with one measurement confirmed within six months of enrollment;\n* Subjects are able to maintain their baseline diet throughout the study (regardless of dietary phenylalanine restriction), and willingness to follow the instruction of investigators to manage the diet for the duration of the trial;\n* Subjects are required to obtain approval from the investigator prior to the use of any concomitant medications during the study period;\n* Willingness and capable per Investigator opinion to comply with study procedures and requirements;\n* Female participants of childbearing potential must have abstained from unprotected sexual intercourse for at least 14 days prior to dosing, and must have a documented negative serum hCG test between Day -7 and Day 0. All participants must be willing to use a highly effective method of contraception for at least 12 months following NGGT002.\n\nExclusion Criteria:\n\n* Anti-AAV8 neutralizing antibody\\>1:10\n* Prior gene therapy\n* Positive hepatitis B virus surface antigen, hepatitis C virus antibody, anti-human immunodeficiency virus antibody or treponema pallidum-specific antibody\n* Hepatic function abnormal: alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\> 1.5 × ULN; alkaline phosphatase (ALP) \\> 1.5 × ULN; total bilirubin (TBil) \\> 1.5 × ULN; international normalized ratio (INR) \\> 1.3\n* Hematology values outside of the normal range (Hemoglobin \\\u003C 110 g\u002FL (male), \\\u003C 100 g\u002FL (female), white blood cells \\\u003C 3.0 × 10\\^9\u002FL, neutrophils \\\u003C 1.5 × 10\\^9\u002FL, platelet counts \\\u003C 100 × 10\\^9\u002FL;\n* Hemoglobin A1c \\> 6%, or fasting glucose \\> 6.1 mmol\u002FL;\n* Clinically significant abnormalities in vital signs, physical examination findings, laboratory tests, or other assessments that, in the Investigator's judgment, are deemed unsuitable for study enrollment;\n* Any contraindications to corticosteroid use or conditions potentially worsened by corticosteroids, as assessed by the Investigator, including but not limited to hypersensitivity to glucocorticoids, epilepsy, recent or unresolved bone fractures, ongoing wound healing, uncontrolled infections, or clinically significant osteoporosis;\n* Subjects with a history of allergy to human serum albumin;\n* All types of past and current malignancy;\n* Severe diseases in the cardiovascular, respiratory, digestive tract, endocrine, kidney, blood, nervous, mental and other systems before screening;\n* Subjects with history of live diseases, such as hepatitis, liver cirrhosis, liver cancer or other serious liver diseases;\n* Subjects who participated in other clinical trails and took drugs within 3 months before screening;\n* Other conditions that the Investigators deemed inappropriate for enrollment.","ALL","18 Years",{"count":19,"type":20},15,"ESTIMATED","INTERVENTIONAL",[23],"EARLY_PHASE1","This is a single-center, open-label, non-randomized, dose escalation study to evaluate the safety, tolerability and efficacy of NGGT002 in adult Phenylketonuria (PKU) subjects. All subjects will receive a single administration of NGGT002 and will be followed for safety and efficacy for 5 years.",[26],"Phenylketonurias",[28],"Phenylalanine hydroxylase (PAH) Deficiency","RECRUITING","2026-03-02",{"date":32,"type":33},"2026-03-04","ACTUAL",{"date":35,"type":33},"2023-03-30",{"date":37,"type":20},"2028-12-30",{"name":39,"class":40},"The First Affiliated Hospital of Bengbu Medical University","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":64},"100393553","nutritional-impacts-of-palynziq-on-patients-with-phenylketonuria-pku-100393553","NCT04404530","Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)","Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome","Inclusion Criteria:\n\n* 16 years of age or older\n* diagnosed with PKU through newborn screening or via diagnosis later in life\n* capable of providing consent for medical tests and procedures\n* prescription for Palynziq and be enrolled in the Palynziq Risk Evaluation and Mitigation Strategy (REMS) program\n* Substudy: Participants must have completed visit 2 of the main study\n\nExclusion Criteria:\n\n* unable to provide consent\n* a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders","16 Years",{"count":51,"type":20},45,"OBSERVATIONAL","Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol\u002FL, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.",[26],"2026-01-13",{"date":57,"type":33},"2026-01-14",{"date":59,"type":33},"2019-10-08",{"date":61,"type":20},"2028-12",{"name":63,"class":40},"Emory University",2,{"id":66,"slug":67,"hasResults":11,"nctId":68,"briefTitle":69,"officialTitle":70,"acronym":4,"eligibilityCriteria":71,"healthyVolunteers":11,"sex":16,"minAge":72,"maxAge":73,"enrollmentInfo":74,"targetDuration":4,"studyType":21,"phases":76,"briefSummary":78,"conditions":79,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":41},"100559177","development-of-novel-psychological-assessment-tools-and-anxiety-intervention-for-phenylketonuria-100559177","NCT06560736","Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria","Development of Novel Psychological Assessment Tools and Anxiety Intervention for PKU: Intervention Trial","Inclusion Criteria:\n\n* Youth 10-17 years old and at least one parent\u002Fguardian\n* Formal diagnosis of PKU (as confirmed\u002Freported by caregiver): identified by newborn screening with PKU as evidenced by a blood Phe level ≥ 360μmol\u002FL; received treatment within the first 30 days of life.\n* Interest in receiving a brief, psychotherapeutic skills program to prevent and treat symptoms of anxiety and\u002For depression, according to parent- and youth-report\n* Located in Missouri, Kansas, or Illinois.\n\nExclusion Criteria:\n\n* Have significant intellectual disability (IQ\\\u003C70) or significant expressive or receptive language that would interfere with psychotherapy, according to parent- or youth-report\n* Plans to receive non-study psychotherapy during the course of study participation, according to parent- or youth-report\n* Plans to change current psychoactive or PKU-related medication during the course of study participation, according to parent- or youth-report\n* Have active suicidal ideation that would necessitate immediate treatment or require higher level of care than brief psychotherapy, according to parent- or youth-report","10 Years","17 Years",{"count":75,"type":20},30,[77],"NA","While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological symptoms and significantly improving quality of life. Study goals include: (1) to demonstrate the efficacy and feasibility of a short-term skills-based intervention (Show Me FIRST) for anxiety and depression in adolescents with PKU, and (2) to further establish the psychometric validity of novel assessment measures recently developed by the Investigators that utilize ecological momentary assessment (EMA) to capture \"in the moment\" neurocognitive and psychological function. The Investigators propose to conduct a randomized controlled trial wherein 30 adolescents with PKU will be randomized to either an immediate intervention group or wait-list\u002Fdelayed intervention group.",[26],"2025-12-19",{"date":82,"type":33},"2025-12-23",{"date":84,"type":33},"2024-10-01",{"date":86,"type":20},"2026-08-31",{"name":88,"class":40},"University of Missouri-Columbia",{"id":90,"slug":91,"hasResults":11,"nctId":92,"briefTitle":93,"officialTitle":94,"acronym":4,"eligibilityCriteria":95,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":96,"enrollmentInfo":97,"targetDuration":4,"studyType":21,"phases":99,"briefSummary":102,"conditions":103,"keywords":104,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":108,"lastUpdatePostDateStruct":109,"startDateStruct":111,"completionDateStruct":113,"leadSponsor":115,"locationsCount":118},"100541664","phase-1-aav-gene-therapy-clinical-study-in-adult-classic-pku-phedom-100541664","NCT06332807","AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)","An Open-Label, Multiple-Center, Phase I\u002FII Dose Escalation Study for the Safety and Efficacy of NGGT002 in Adults With Classic Phenylketonuria","Inclusion Criteria:\n\n1. Is willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to any research-related procedures; a legally authorized representative may provide written consent and assent may be requested.\n2. Male and female subjects with diagnosis of classic PKU, a condition characterized by severe PAH deficiency with confirmed PAH mutations predicted with no residual enzyme activity. A list of PAH mutations for classic PKU based on in vitro PAH activity (Himmelreich et al., 2018) and the genotype-phenotype correlation (Garbade et al., 2019) can be found in BIOPKU genotypes database (http:\u002F\u002Fwww.biopku.org\u002Fpah).\n3. Adults aged 18-55 at the time of informed consent\n4. Subjects intolerant or unresponsive to available medical therapies, such as Kuvan, Playnzip, etc.\n5. Subjects who have been on medications, such as Kuvan, Palynziq, etc but have come off for medical reasons or the patient's decision at least 28 days prior to signing the consent form (Subjects who have good disease control on these existing therapies will not be included in this study).\n6. At least 1 documented measurements of Phe ≥ 600 μmol\u002FL while on usual diet in the preceding 6 months.\n7. Subjects are willing to record their diet and follow the instruction of dietitians during the trial.\n8. Willingness and capable per Investigator opinion to comply with study procedures and requirements.\n9. Women of child bearing potential must be confirmed as negative non pregnant subjects by blood pregnancy test from day -28 to day 0. Subjects must agree to use a highly effective form of contraception from the time of NGGT002 administration until a minimum of 1 year after NGGT002 administration, and for male subjects, a minimum of 3 consecutive semen samples are negative for AAV8 after administration of NGGT002. Highly effective birth control methods include:\n\n   * documented vasectomy or permanent sterilization\n   * condom\n   * combined (estrogen and progestogen-containing) hormonal contraception (oral, intravaginal or transdermal)\n   * progestogen-only hormonal contraception associated with inhibition of ovulation (oral, injectable or implantable)\n   * intrauterine device\n   * intrauterine hormone-releasing system\n   * sexual abstinence is acceptable only as true abstinence and when in line with the preferred and usual lifestyle of the subject. Periodic abstinence (e.g., calendar, ovulation, hypothermal, post-ovulation) is not acceptable as a form of abstinence.\n\nExclusion Criteria:\n\n1. Subjects with PKU that is not due to PAH mutation\n2. Presence of anti-AAV8 neutralizing antibodies\n3. Prior to dosing, subjects exceed the limit of any of the following liver function and hematology tests in two consecutive blood laboratory tests:\n\n   * Alanine aminotransferase (ALT) \\>1.5×ULN and\u002For aspartate aminotransferase (AST) \\>1.5×ULN\n   * Alkaline phosphatase (ALP) \\>1.5×ULN\n   * Total bilirubin (TBil) \\>1.5×ULN, direct bilirubin \\>1.5×ULN\n   * International normalized ratio (INR) \\> 1.5\n   * Blood creatinine (Scr) \\>1.5×ULN\n   * Hematology values outside of the normal range (Hemoglobin \\\u003C110 g\u002FL (male), \\\u003C100 g\u002FL (female), white blood cell \\\u003C3.0×10\\^9\u002FL, neutrophil \\\u003C1.5×10\\^9\u002FL, platelet \\\u003C100×10\\^9\u002FL)\n   * Hemoglobin A1c \\>6% or fasting glucose \\>6.1 mmol\u002FL\n4. At the time of screening, abnormal vital signs (i.e. Temperature\\\u003C36.3°C or \\>37.4°C; Blood pressure\\\u003C100\u002F60 mmHg or \\>130\u002F80 mmHg; heart rate \\\u003C60\u002Fmin or\\>100\u002Fmin; respiratory rate \\\u003C12\u002Fmin or \\>18\u002Fmin; oxygen saturation\\\u003C95%), physical examination, laboratory tests, or other related results that have clinical significance, and the researchers believe they are unsuitable for enrollment.\n5. Contraindications to corticosteroid use or possible deterioration of corticosteroid use assessed and determined by the Investigator.\n6. Active infection with hepatitis A virus (HAV ribonucleic acid \\[RNA\\] positive), active or occult hepatitis B virus infection (positive HBV-DNA or anti-HBc positive with negative hBsAg, HBV surface antigen), active infection with hepatitis C virus (HCV RNA positive), infection with the human immunodeficiency virus (HIV) as measured by antibodies to HIV-1 and HIV-2, active or latent infection with tuberculosis (TB) measured by Quantiferon Gold, infection with syphilis by rapid plasma regainn (RPR) and\u002For serum syphilis antibody, treponema pallidum particle agglutination (TPPA).\n7. Subjects with history of liver disease such as clinically significant steatosis, fibrosis, non-alcoholic steatohepatitis (NASH) and cirrhosis, biliary disease within 6 months of informed consent; except for Gilbert's syndrome.\n8. All types of past and current malignancy\n9. Imaging (liver ultrasound) proved the existence of Liver fibrosis, liver cirrhosis and other serious liver diseases\n10. Severe diseases in the cardiovascular, respiratory, digestive tract, endocrine, kidney, blood, nervous, mental and other systems before screening.\n11. History of allergy to Albumin (Human)\n12. The subjects who have Substance Use Disorder (for example alcohol, heroin, amphetamine, etc)\n13. The subjects who have received any gene therapy in the past, regardless of when it was administered.\n14. The subjects who have received any investigational treatment and took drugs within 3 months before screening (or 5 half-lives, if longer)\n15. Subjects with elevated circulating serum alpha-fetoprotein (AFP)\n16. Other conditions that the Investigators deemed inappropriate for enrollment, such as PKU severe comorbidities and conditions (i.e. renal insufficiency or kidney failure, osteoporosis, anemia, acid reflux or gastro-esophageal ulcer, major depression, epilepsy, etc.), which may be deteriorated with the potential risks of NGGT002.\n17. Subjects who are presently on available medications for the treatment of PKU, such as Kuvan, Palynziq, etc.\n18. Subjects who weight over 120 Kg\n19. Subjects who consume too much natural protein (\\>2 g\u002FKg body weight\u002Fday) in their daily diet\n20. Breastfeeding subjects will not be included in the study","55 Years",{"count":98,"type":20},12,[100,101],"PHASE1","PHASE2","This is a Phase 1\u002F2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU). NGGT002 is an rAAV8 based vector carrying a functional copy of the human PAH gene.\n\nParticipants will receive a single administration of NGGT002 and will be followed for safety and efficacy for 5 years.",[26],[105,106,107],"PAH","Phenylalanine","Phenylalanine Hydroxylase","2025-11-24",{"date":110,"type":33},"2025-12-02",{"date":112,"type":33},"2025-01-10",{"date":114,"type":20},"2030-12-30",{"name":116,"class":117},"NGGT INC.","INDUSTRY",5,{"id":120,"slug":121,"hasResults":11,"nctId":122,"briefTitle":123,"officialTitle":123,"acronym":124,"eligibilityCriteria":125,"healthyVolunteers":11,"sex":16,"minAge":72,"maxAge":4,"enrollmentInfo":126,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":128,"conditions":129,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":41},"100449105","metabolic-control-and-patient-well-being-in-phenylketonuria-do-guidelines-make-a-difference-100449105","NCT05128149","Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?","PKU_Guide","Inclusion Criteria:- Patients with PKU from age 10 years requiring dietary and \u002F or pharmacological treatment according to locally applied guidelines\n\n* Parents of patients with PKU aged 10 to 18 years requiring dietary and \u002F or pharmacological treatment according to locally applied guidelines\n* Ability and willingness to answer the questionnaires and follow the study procedures\n* Informed consent as documented by signature\n\nExclusion criteria for patients and parents :\n\n* Inability to follow the procedures of the study, e.g. due to language problems or severely reduced health status\n* Pregnant patients or patients who have disclosed to their physician that they are planning a pregnancy in the near future\n* Hyperphenylalaninaemia or mild forms of PKU or other inborn errors associated with elevated Phe but not requiring dietary and \u002F or pharmacological treatment according to locally applied guidelines\n* No inform",{"count":127,"type":20},200,"Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal. Unsurprisingly, health-related quality of life (HrQol) is negatively affected if patients have to follow a dietary regime of this kind. Adherence to treatment in PKU is very variable. Factors of significant impact on adherence to treatment and well-being in chronic disease such as self-efficacy or parenting stress have not yet been widely investigated in PKU patients.\n\nThe ideal treatment prescription (and guideline) recommends as much as necessary and as little as possible, based on the best evidence available. Patients should neither be deprived of treatment options nor be exposed to overtreatment.\n\nThis study investigates adherence, metabolic control, HrQol in PKU patients treated by centres which follow different guidelines",[26],"2025-04-09",{"date":132,"type":33},"2025-04-13",{"date":134,"type":33},"2021-11-15",{"date":136,"type":20},"2025-12-31",{"name":138,"class":40},"University Children's Hospital, Zurich",{"id":140,"slug":141,"hasResults":11,"nctId":142,"briefTitle":143,"officialTitle":144,"acronym":4,"eligibilityCriteria":145,"healthyVolunteers":146,"sex":16,"minAge":17,"maxAge":147,"enrollmentInfo":148,"targetDuration":4,"studyType":21,"phases":149,"briefSummary":150,"conditions":151,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":159,"lastUpdatePostDateStruct":160,"startDateStruct":162,"completionDateStruct":164,"leadSponsor":166,"locationsCount":64},"100542053","effect-of-large-neutral-amino-acids-in-adults-with-classical-phenylketonuria-100542053","NCT06337864","Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria","Safety and Efficacy of Treatment With Large Neutral Amino Acids in Patients With Classical Phenylketonuria","Patients ≥ 18 years of age with Classical PKU molecularly confirmed via the finding of two pathogenic variants in the phenylalanine hydroxylase (PAH) gene and\u002For historical evidence of Phe concentrations ≥1200 μmol\u002FL in the medical history\n\nInclusion Criteria:\n\n* Treatment initiation within the first month of life\n* Intelligence quotient over 84, based upon the baseline neuropsychological evaluation\n* Conventional dietary treatment up to minimum 15 years of age\n* Signed informed consent\n* Willing and able to comply with the protocol and study procedures\n\nExclusion Criteria:\n\n* Unable or unwilling to adhere to the requirements of the study\n* A female who is pregnant or breastfeeding or planning to get pregnant during the study period\n* Concomitant medication that may interfere with the PET analysis, as judged by the investigator\n* A serious neuropsychiatric disease that could interfere with the subject's ability to participate in the study at the discretion of the investigator\n* Concomitant treatment with BH4 supplementation (sapropterin) or Pegvaliase-pqpz (PALYNZIQ)\n* Failing to submit at least one blood Phe home sample during the year before study initiation\n* Standard MRI contraindications\n* Body weight over 110 kg",true,"50 Years",{"count":75,"type":20},[77],"The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA treatment compared to the classic dietary treatment on cerebral dopamine synthesis in patients with classic PKU. We will assess LNAAs effectiveness on neurotransmitter synthesis, cognitive function, mental health, and safety, compared to the standard diet.",[152,153,154,155,156,157,158,26],"Brain Diseases","Brain Diseases, Metabolic","Brain Diseases, Metabolic, Inborn","Genetic Diseases, Inborn","Metabolism, Inborn Errors","Amino Acid Metabolism, Inborn Errors","Metabolic Disease","2025-04-02",{"date":161,"type":33},"2025-04-06",{"date":163,"type":33},"2024-11-01",{"date":165,"type":20},"2026-09-30",{"name":167,"class":40},"Rigshospitalet, Denmark",{"id":169,"slug":170,"hasResults":11,"nctId":171,"briefTitle":172,"officialTitle":173,"acronym":4,"eligibilityCriteria":174,"healthyVolunteers":11,"sex":16,"minAge":175,"maxAge":176,"enrollmentInfo":177,"targetDuration":4,"studyType":21,"phases":179,"briefSummary":180,"conditions":181,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":183,"lastUpdatePostDateStruct":184,"startDateStruct":186,"completionDateStruct":188,"leadSponsor":190,"locationsCount":41},"100571329","walking-program-in-fatty-liver-children-with-phenylketonuria-100571329","NCT06718842","Walking Program in Fatty Liver Children With Phenylketonuria","Walking Program in Fatty Liver Children With Phenylketonuria: Response of Liver Enzymes","Inclusion Criteria:\n\n* PKU children\n* obese children\n* fatty liver children (non-alcoholic fatty liver)\n\nExclusion Criteria:\n\n* cardiac children\n* diabetic children\n* neurogenic disorders\n* respiratory and renal problems","9 Years","12 Years",{"count":178,"type":20},40,[77],"phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. PKU is usually associated with many metabolic complication including non-alcoholic fatty liver",[26,182],"Non Alcoholic Fatty Liver","2024-12-02",{"date":185,"type":33},"2024-12-05",{"date":187,"type":33},"2024-09-15",{"date":189,"type":20},"2025-01-30",{"name":191,"class":40},"Cairo University",{"id":193,"slug":194,"hasResults":11,"nctId":195,"briefTitle":196,"officialTitle":197,"acronym":4,"eligibilityCriteria":198,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":96,"enrollmentInfo":199,"targetDuration":4,"studyType":21,"phases":201,"briefSummary":202,"conditions":203,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":204,"lastUpdatePostDateStruct":205,"startDateStruct":207,"completionDateStruct":209,"leadSponsor":211,"locationsCount":64},"100568937","phase-1-safety-and-efficacy-study-of-nggt002-in-cpku-adult-subjects-100568937","NCT06687733","Safety and Efficacy Study of NGGT002 in cPKU Adult Subjects","A Phase I\u002FII Study for the Safety and Efficacy of Intravenous Infusion With NGGT002 in Adults Patients With Classic Phenylketonuria","Inclusion Criteria:\n\n1. Voluntarily participating in the study and signing the informed consent form;\n2. Gender is not limited; patients must carry biallelic pathogenic or likely pathogenic variants in the PAH gene;\n3. Adult patients aged 18 to 55 years;\n4. In the past 24 months, at least two blood Phe concentrations have been ≥600 μmol\u002FL (10 mg\u002FdL), with at least one of these measurements taken within 6 months prior to the screening period;\n5. Willing and able to manage their diet;\n6. According to the investigator's opinion, willing and able to comply with the study procedures and requirements;\n7. Women of childbearing potential must have a negative serum HCG test within 7 days before dosing. Participants must agree to use highly effective contraceptive measures for at least one year after receiving NGGT002.\n\nExclusion Criteria:\n\n1. Presence of anti-AAV8 neutralizing antibodies（≥1:5）\n2. Subjects whose disease is well-controlled with existing therapies, such as those currently receiving medications like Sapropterin Dihydrochloride tablets, Pegvaliase-pqpz, etc.;\n3. Before dosing, the patient's hematological laboratory tests exceed any of the following limits:\n\n   * Alanine Transaminase (ALT) \\> 1.5×ULN and\u002For Aspartate Aminotransferase (AST) \\> 1.5×ULN\n   * Alkaline Phosphatase (ALP) \\> 1.5×ULN\n   * Total Bilirubin (TBil) \\> 1.5×ULN, Direct Bilirubin \\> 1.5×ULN\n   * International Normalized Ratio (INR) \\> 1.5\n   * Serum Creatinine (Scr) \\> 1.5×ULN\n   * Hematological values outside the normal range (Hemoglobin: \\\u003C110 g\u002FL for males, \\\u003C100 g\u002FL for females, White Blood Cells \\\u003C3.0×10\\^9\u002FL, Neutrophils \\\u003C1.5×10\\^9\u002FL, Platelets \\\u003C100×10\\^9\u002FL)\n   * Glycated Hemoglobin (HbA1c) \\> 6% or Fasting Blood Glucose \\> 6.1 mmol\u002FL\n4. At screening, clinically significant abnormal vital signs, physical examination, laboratory test results, or other relevant findings that, in the investigator's opinion, make the subject unsuitable for inclusion;\n5. In the investigator's assessment, the subject has contraindications to corticosteroid use or conditions that could lead to a worsening of the condition;\n6. Hepatitis A virus infection, active or occult hepatitis B virus infection, active hepatitis C virus infection, positive for Human Immunodeficiency Virus (HIV) antibodies, positive syphilis test, active or latent tuberculosis (TB) infection;\n7. A significant history of liver disease, such as steatosis, fibrosis, non-alcoholic steatohepatitis, and cirrhosis, biliary diseases, within 6 months prior to signing the informed consent form, except for Gilbert's syndrome;\n8. History of malignant tumors;\n9. Imaging (liver ultrasound) evidence of severe liver diseases such as hepatic fibrosis or cirrhosis;\n10. In the investigator's assessment, the subject has a history of serious cardiovascular, respiratory, gastrointestinal, endocrine, renal, hematological, neurological, psychiatric, or other systemic diseases before screening;\n11. History of allergy to human serum albumin;\n12. Subjects with a history of substance abuse (e.g., alcohol, heroin, amphetamines, etc.);\n13. Subjects who have received gene therapy at any time in the past.\n14. Subjects who have participated in other non-gene therapy drug clinical trials and received the investigational drug within 3 months (or 5 half-lives of the other investigational drug) prior to screening;\n15. Subjects with elevated Alpha-fetoprotein (AFP);\n16. Other conditions that, in the investigator's opinion, make the subject unsuitable for inclusion, such as severe comorbidities associated with PKU (e.g., renal insufficiency or renal failure, osteoporosis, anemia, gastroesophageal reflux or peptic ulcer, major depressive disorder, epilepsy, etc.);\n17. Subjects weighing more than 100 kg;\n18. Subjects whose daily diet includes excessive natural protein intake (\\>2 g\u002Fkg\u002Fday).",{"count":200,"type":20},18,[100,101],"This is a Phase 1\u002F2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU). NGGT002 is a rAAV8 based vector carrying a functional copy of the human PAH gene.\n\nParticipants will receive a single administration of NGGT002 and will be followed for safety and efficacy for 5 years.",[26],"2024-11-12",{"date":206,"type":33},"2024-11-14",{"date":208,"type":33},"2024-07-25",{"date":210,"type":20},"2031-07-30",{"name":212,"class":117},"NGGT (Suzhou) Biotechnology Co., Ltd.",{"id":214,"slug":215,"hasResults":11,"nctId":216,"briefTitle":217,"officialTitle":217,"acronym":4,"eligibilityCriteria":218,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":219,"targetDuration":4,"studyType":21,"phases":221,"briefSummary":222,"conditions":223,"keywords":225,"overallStatus":230,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":4},"100436941","comparison-of-atherogenic-risk-factors-and-efficacy-of-nutritional-treatment-among-adult-phenylketonuria-patients-100436941","NCT04969809","Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients","Inclusion Criteria:\n\n* The study will include subjects over the age of 18 who have PKU or hyperphenylalaninemia and are expected to have dietary treatment according to expert recommendations. A prerequisite for entering the investigation will be a signed consent to participate in the investigation and the ability of the participant to have a good understanding of the content of the research and to fully participate in the interventional dietary process.\n\nExclusion Criteria:\n\n* The investigators will not include adult patients who do not manage their diet on their own and need caregivers due to limited cognitive abilities (patients with late-diagnosed disease and neurological consequences of the disease) or who do not want to sign an informed consent.",{"count":220,"type":20},50,[77],"Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body. Accumulation of phenylalanine in the brain causes brain damage that leads to mental retardation, neurological complications, and movement disorders.\n\nThe study is inherited autosomal recessively. The basis of treatment is a low-protein diet with dietary supplements of aminoxlin without phenylalanine and with appropriate substitutes for micro and macronutrients needed for different ages. A low-protein diet regulates the level of phenylalanine in the blood. This is especially important in childhood.\n\nIn the study, which will basically consist of theoretical, experimental and numerical work, the investigators will limit to a specific population, i.e. to adult patients with phenylketonuria. The research is intended to prove the hypothesis that with proper nutritional treatment of phenylketonuria in adulthood, we can have a positive effect on the patient's well-being, better blood results and improved lifestyle.\n\nThe investigators intend to test this hypothesis by implementing a complex, multidisciplinary project that will include a comprehensive treatment of adult PKU patients. This will be based on a multidisciplinary approach with the inclusion of medical and nutritional treatment. As part of the project, the investigators, among other things, create questionnaires and analyze food diaries related to the mentioned areas.\n\nUsing various statistical techniques, the investigators analyze the impact of individual factors on the success of achieving the objectives of the proposed study. The original contribution to science will be the nutritional treatment of adult patients with phenylketonuria in Slovenia and the consequent reduction of health complications in adulthood of patients with phenylketonuria.",[26,224],"Nutritional and Metabolic Diseases",[226,227,228,229],"adult phenylketonuria","nutrition therapy","cardiovascular diseases","nutrition and metabolic diseases","NOT_YET_RECRUITING","2021-07-09",{"date":233,"type":33},"2021-07-21",{"date":235,"type":20},"2021-09-01",{"date":237,"type":20},"2026-09-01",{"name":239,"class":40},"University Medical Centre Ljubljana"]