NCT06332807
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom) No drug interventions treatment 1 / 2 recruiting NCT06337864
Effect of Large Neutral Amino Acids in Adults with Classical Phenylketonuria No drug interventions treatment Not Available not_yet_recruiting NCT02445521
Testing of Four Home Phenylalanine Monitoring Prototype Devices No drug interventions Not Available Not Available completed NCT03792451
Nutrition Status of Adults Treated With Pegvaliase Not Available Not Available completed NCT05356377
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU Not Available Not Available enrolling_by_invitation NCT00104247
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels treatment 3 completed NCT04433728
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002. No drug interventions Not Available Not Available unknown_status NCT05487378
Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute. No drug interventions treatment Not Available completed NCT05222178
Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency treatment 1 terminated NCT05096988
Evaluation of PKU Sphere Liquid No drug interventions treatment Not Available completed NCT04969809
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients No drug interventions treatment Not Available not_yet_recruiting NCT05174559
Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU) No drug interventions treatment Not Available active_not_recruiting NCT06560736
Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria No drug interventions treatment Not Available not_yet_recruiting NCT05249218
Impact of Fruit and Vegetables in PKU No drug interventions other Not Available completed NCT01209819
Bone Mineral Density in Adults With Hyperphenylalaninemia No drug interventions Not Available Not Available completed NCT05971563
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers No drug interventions other Not Available active_not_recruiting NCT04768348
Natural History Clinical Study in Adult PKU No drug interventions Not Available Not Available terminated NCT03777826
Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU) No drug interventions treatment Not Available completed NCT03333720
Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria No drug interventions supportive_care Not Available withdrawn NCT04076176
The Effects of CGMP in Children and Adults With PKU No drug interventions treatment Not Available completed NCT04251494
A Study Into the Future Cardiovascular Disease (CVD) Risk of Phenylketonuria (PKU) Patients on a Low Phenylalanine Treatment Diet (LPD). No drug interventions Not Available Not Available unknown_status NCT04898829
Evaluation of PKU Explore France No drug interventions supportive_care Not Available active_not_recruiting NCT00272792
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet treatment 3 completed NCT04375592
Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria No drug interventions Not Available Not Available completed NCT04679467
Evaluation of PKU Sphere in Italy No drug interventions supportive_care Not Available completed NCT03820804
Nutritional Status in Phenylketonuria Not Available Not Available completed NCT06061614
Safety and Efficacy Study of NGGT002 in PKU Adult Subjects No drug interventions treatment 0 recruiting NCT05497050
The Effect of Nursing Empowerment Program No drug interventions supportive_care Not Available completed NCT03655223
Early Check: Expanded Screening in Newborns No drug interventions Not Available Not Available enrolling_by_invitation NCT03856203
Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase No drug interventions Not Available Not Available completed NCT06332105
Evaluation of Low Phenylalanine Formulas No drug interventions treatment Not Available active_not_recruiting NCT03167697
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia No drug interventions supportive_care Not Available completed NCT04943393
Remote Neurocognitive and Psychological Assessment in PKU No drug interventions Not Available Not Available completed NCT04318509
Market Research - Acceptability Study for a New PKU Protein Substitute No drug interventions other Not Available completed NCT05998109
PheCheck Feasibility Study No drug interventions Not Available Not Available recruiting NCT03952156
Gene Therapy Clinical Study in Adult PKU No drug interventions treatment 1 / 2 terminated NCT00225615
A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels treatment 3 completed NCT04210206
Short-term Effects of Good Metabolic Control on Cognitive Function, Wellbeing, and Metabolic Parameters in Adult Patients With Phenylketonuria No drug interventions treatment Not Available terminated NCT05128149
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference? No drug interventions Not Available Not Available recruiting NCT05229549
Study to Evaluate the Effect on Nitrogen Retention of Two Different Posology Schemes of PKU GOLIKE PLUS 3-16 and Free AAs in Patients With Phenylketonuria No drug interventions treatment Not Available terminated NCT05827536
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU. No drug interventions treatment Not Available recruiting NCT04272736
PKU Low Calorie Drink Study No drug interventions supportive_care Not Available not_yet_recruiting NCT04452513
A Prospective Clinical Study of Phenylketonuria (PKU) No drug interventions Not Available Not Available completed NCT03419819
Evaluation of PKU Sphere No drug interventions treatment Not Available completed NCT04368624
PKU Skin Stripping No drug interventions Not Available Not Available completed NCT04110496
Safety and Tolerability of RTX-134 in Adults With Phenylketonuria No drug interventions treatment 1 terminated NCT04404530
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU) Not Available Not Available recruiting NCT05051657
Evaluation of the Express Plus Range No drug interventions supportive_care Not Available recruiting NCT04309331
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute No drug interventions other Not Available completed NCT00104260
Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria treatment 2 completed NCT04302194
Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development. No drug interventions Not Available Not Available unknown_status NCT03771391
A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU No drug interventions treatment Not Available completed NCT04248062
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism No drug interventions Not Available Not Available completed NCT04256655
Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of CDX 6114 in PKU Patients No drug interventions treatment 1 withdrawn NCT04227080
BH4 Responsiveness in PAH Deficiency PKU Patients treatment 4 unknown_status NCT06628128
A Study to Evaluate the Long-Term Safety and Efficacy of JNT-517 in Participants with Phenylketonuria treatment 3 not_yet_recruiting NCT01806051
A Pilot Study on Diurnal Variation Not Available Not Available terminated NCT03694353
Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU treatment 3 completed NCT03309345
Body Composition, Energy Intake and Expenditure in People With Phenylketonuria No drug interventions Not Available Not Available unknown_status NCT04086511
PANDA: PKU Amino Acid Evaluation No drug interventions Not Available Not Available completed NCT05270837
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria treatment 3 active_not_recruiting NCT01617070
Effects of Kuvan on Melatonin Secretion treatment 4 completed NCT06305234
A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade) Not Available Not Available recruiting NCT03505125
A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults No drug interventions Not Available Not Available completed NCT01889862
Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU treatment 3 completed NCT04480567
AAV Gene Therapy Study for Subjects With PKU treatment 1 / 2 active_not_recruiting NCT02009904
Simple Breath Test to Examine Phenylalanine Metabolism No drug interventions Not Available Not Available completed NCT05813678
A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace) Not Available Not Available recruiting NCT02440932
Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis No drug interventions Not Available Not Available completed NCT06629987
Determining the Most Efficient Screening Cut Off Levels for Phenylketonuria (PKU) No drug interventions Not Available Not Available completed NCT05062226
GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR No drug interventions other Not Available completed NCT01904708
Moderate Intensity Exercise and Phenylketonuria No drug interventions basic_science Not Available terminated NCT02212288
Antioxidant Signature in Adult Patients With Phenylketonuria No drug interventions Not Available Not Available completed NCT03913156
Feeding Patterns and Practices in Young Children With PKU During the First Two Years of Life No drug interventions other Not Available completed NCT01412437
Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria diagnostic Not Available withdrawn NCT05995717
Evaluation of PKU UP No drug interventions treatment Not Available recruiting NCT01619722
Study of a National Cohort of Adult Patients With Phenylketonuria No drug interventions Not Available Not Available completed NCT05166161
A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria treatment 3 recruiting NCT06302348
A Study of Sepiapterin in Participants With Phenylketonuria (PKU) treatment 3 recruiting NCT00924703
Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) treatment 2 completed NCT03516487
Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria No drug interventions treatment 1 / 2 completed NCT00892554
The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU) No drug interventions prevention Not Available completed NCT01082328
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period treatment 4 completed NCT01732471
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria treatment 3 completed NCT02677870
The Effectiveness of Kuvan in Amish PKU Patients treatment 4 completed NCT00006142
Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria No drug interventions prevention Not Available completed NCT00065299
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) No drug interventions treatment Not Available completed NCT03168399
Evaluation of PKU Explore No drug interventions treatment Not Available completed NCT05781399
First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria treatment 1 recruiting 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 No drug interventions prevention Not Available recruiting NCT01428258
Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria No drug interventions treatment Not Available completed NCT00838435
Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU treatment 3 completed NCT05764239
Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3) No drug interventions treatment 3 terminated NCT05894122
Evaluation of Capillary Blood Collection Devices (Mitra® and HemaPEN®) No drug interventions Not Available Not Available recruiting NCT03058848
Evaluation of PKU Start No drug interventions treatment Not Available completed NCT01924026
Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study No drug interventions Not Available Not Available completed NCT01274026
Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders Not Available Not Available completed NCT04085666
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU) No drug interventions other 1 completed NCT00986973
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy treatment Not Available completed NCT01819727
An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 treatment 3 completed NCT00728676
Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors No drug interventions Not Available Not Available completed NCT00484991
Sapropterin Expanded Access Program Not Available Not Available approved_for_marketing NCT00730080
Sapropterin in Individuals With Phenylketonuria Not Available Not Available completed NCT05972629
A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria No drug interventions treatment 1 / 2 recruiting NCT01212744
Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) treatment 2 completed NCT01917344
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study No drug interventions diagnostic Not Available completed NCT00688844
Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 Not Available Not Available completed NCT03858101
SNAP: Study Nutrients in Adult PKU No drug interventions Not Available Not Available completed NCT00789568
A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects treatment 1 completed NCT00909012
Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria No drug interventions basic_science Not Available completed NCT01965912
Kuvan®'s Effect on the Cognition of Children With Phenylketonuria treatment 4 completed NCT02915510
GMP Drink for PKU Study No drug interventions supportive_care Not Available completed NCT03097250
MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria No drug interventions Not Available Not Available completed NCT04348708
Long-Term Follow Up Study of Subjects Previously Administered HMI 102 No drug interventions Not Available Not Available enrolling_by_invitation NCT01376908
Kuvan® in Phenylketonuria Patients Less Than 4 Years Old treatment 3 completed NCT02176603
Observational Study of Endothelial Dysfunction in Phenylketonuria No drug interventions Not Available Not Available completed NCT02555579
Simplified Diet Approach in Phenylketonuria No drug interventions treatment Not Available completed NCT00925054
Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU treatment 2 completed NCT04879277
Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria No drug interventions screening Not Available completed NCT02297347
The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria No drug interventions Not Available Not Available completed NCT01541397
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy treatment Not Available terminated NCT06147856
A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria No drug interventions treatment 1 / 2 active_not_recruiting NCT01114737
Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients treatment 3 completed NCT03939052
Protein Requirements in Adults With Phenylketonuria (PKU) No drug interventions supportive_care Not Available completed NCT00260000
Study of BH4, a New and Simple Treatment of Mild PKU treatment 2 completed NCT01465100
Liver Cell Transplant for Phenylketonuria No drug interventions treatment 1 / 2 terminated NCT00841100
Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response treatment 2 completed NCT00309400
The Early History of Universal Screening for Metabolic Disorders No drug interventions Not Available Not Available completed NCT02468570
A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302 No drug interventions Not Available Not Available completed NCT04534842
Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria treatment 2 completed NCT00778206
PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Not Available Not Available completed NCT00964236
The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) Not Available Not Available completed NCT00244218
Response to Phenylketonuria to Tetrahydrobiopterin (BH4) treatment 1 terminated NCT01096758
Follow-up of Adult Phenylketonuria (PKU) Patients No drug interventions Not Available Not Available completed NCT01560286
A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks treatment 2 completed NCT06289348
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. No drug interventions Not Available Not Available not_yet_recruiting NCT05948020
Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria No drug interventions treatment Not Available recruiting NCT01977820
Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria treatment 2 terminated NCT00634660
Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria treatment 1 completed NCT01395394
Phenylketonuria, Oxidative Stress, and BH4 Not Available 2 terminated NCT01965691
Protein Requirements in Children With Phenylketonuria (PKU) No drug interventions supportive_care Not Available completed NCT00827762
Behavioral Effects of Kuvan in Children With Mild Phenylketonuria Not Available Not Available terminated NCT00332189
Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 treatment 3 completed NCT05099640
A Study of PTC923 in Participants With Phenylketonuria No drug interventions treatment 3 completed NCT01869972
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia No drug interventions Not Available Not Available completed NCT03788343
Phenylalanine and Its Impact on Cognition No drug interventions supportive_care 4 completed