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Conditions: PKU
Interventions: diet, sapropterin dihydrochloride; Dietary Supplement · Drug
Lead sponsor: Children's National Research Institute; Other
Eligibility: 18 Years to 40 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2012
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Phenylketonuria (PKU)
Interventions: Pegvaliase, Diet Only; Drug · Other
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 12 Years to 17 Years
Enrollment: 55 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 13
States / cities: Phoenix, Arizona • Little Rock, Arkansas • Aurora, Colorado + 10 more

Conditions: Phenylketonurias
Interventions: Sapropterin Dihydrochloride, Placebo; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 4 Years to 12 Years
Enrollment: 45 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006
U.S. locations: 9
States / cities: Los Angeles, California • Oakland, California • Sacramento, California + 6 more

Conditions: Phenylketonurias, PAH Deficiency, Phenylketonuria
Interventions: HMI-103; Drug
Lead sponsor: Homology Medicines, Inc; Industry
Eligibility: 18 Years to 55 Years
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 2
States / cities: Topeka, Indiana • Lancaster, Pennsylvania

Conditions: Phenylketonurias
Interventions: sapropterin dihydrochloride; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 8 Years and older
Enrollment: 700 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2005
U.S. locations: 13
States / cities: Los Angeles, California • Oakland, California • New Haven, Connecticut + 10 more

Conditions: Alcohol Dependence
Interventions: Not listed
Lead sponsor: University of Texas Southwestern Medical Center; Other
Eligibility: 18 Years to 60 Years · Male only
Enrollment: 75 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2012
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Phenylketonuria
Interventions: PTC923; Drug
Lead sponsor: PTC Therapeutics; Industry
Eligibility: Not listed
Enrollment: 247 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2026
U.S. locations: 7
States / cities: Aurora, Colorado • Gainesville, Florida • Indianapolis, Indiana + 4 more

Conditions: Phenylketonurias
Interventions: PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards; Device · Diagnostic Test
Lead sponsor: Lumos Diagnostics; Industry
Eligibility: 10 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Phenylketonurias
Interventions: Not listed
Lead sponsor: Emory University; Other
Eligibility: Not listed
Enrollment: 9 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015
U.S. locations: 3
States / cities: Atlanta, Georgia • Decatur, Georgia

Conditions: Phenylketonuria
Interventions: Not listed
Lead sponsor: Shoji Yano; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Phenylketonurias
Interventions: sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 8 Years and older
Enrollment: 89 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2006
U.S. locations: 13
States / cities: Los Angeles, California • Oakland, California • New Haven, Connecticut + 10 more

Conditions: Phenylketonuria (PKU)
Interventions: Kuvan, Large Neutral Amino Acid Therapy; Drug · Dietary Supplement
Lead sponsor: University of Southern California; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Phenylketonuria, Healthy
Interventions: SYNB1618, Placebo; Drug
Lead sponsor: Synlogic; Industry
Eligibility: 18 Years to 64 Years
Enrollment: 70 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2019
U.S. locations: 4
States / cities: Boston, Massachusetts • Pittsburgh, Pennsylvania • Nashville, Tennessee + 1 more

Conditions: Phenylketonuria
Interventions: Kuvan; Drug
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 6 Years to 18 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2010
U.S. locations: 4
States / cities: Chicago, Illinois • Columbia, Missouri • St Louis, Missouri + 1 more

Conditions: Phenylketonuria (PKU) and Hyperphenylalaninemia
Interventions: PheCheck, Dried Blood Spot Cards.; Device · Diagnostic Test
Lead sponsor: Aptatek BioSciences, Inc; Industry
Eligibility: 1 Year and older
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2027
U.S. locations: 2
States / cities: Chicago, Illinois • Boston, Massachusetts

Conditions: Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
Interventions: Not listed
Lead sponsor: University of Miami; Other
Eligibility: Not listed
Enrollment: 10 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2006 – 2008
U.S. locations: 1
States / cities: Miami, Florida

Conditions: Hyperphenylalaninemia, Phenylketonuria
Interventions: Sapropterin; Drug
Lead sponsor: The University of Texas Health Science Center, Houston; Other
Eligibility: 18 Years to 50 Years
Enrollment: 6 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2012
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Phenylketonuria
Interventions: Sapropterin; Drug
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 18 Years to 50 Years
Enrollment: 6 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Phenylketonuria
Interventions: rAvPAL-PEG 0.001 mg/kg, rAvPAL-PEG 0.003 mg/kg, rAvPAL-PEG 0.01 mg/kg, rAvPAL-PEG 0.03 mg/kg, rAvPAL-PEG 0.1 mg/kg; Drug
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: 16 Years to 55 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2015
U.S. locations: 11
States / cities: Aurora, Colorado • Decatur, Georgia • Chicago, Illinois + 8 more

Conditions: Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions: Confirmatory Testing; Diagnostic Test
Lead sponsor: RTI International; Other
Eligibility: 1 Day to 31 Days
Enrollment: 30,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2026
U.S. locations: 1
States / cities: Research Triangle Park, North Carolina

Conditions: Phenylketonuria (PKU)
Interventions: JNT-517 Tablet, Placebo; Drug · Other
Lead sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.; Industry
Eligibility: 12 Years to 17 Years
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2026
U.S. locations: 6
States / cities: Gainesville, Florida • Tampa, Florida • Portland, Oregon + 3 more

Conditions: Phenylketonuria (PKU)
Interventions: JNT-517; Drug
Lead sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.; Industry
Eligibility: 4 Years and older
Enrollment: 240 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 8
States / cities: Gainesville, Florida • Tampa, Florida • Portland, Oregon + 4 more

Conditions: Phenylketonuria
Interventions: JNT-517 Tablet, Placebo Tablet: BID; Drug
Lead sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 120 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 10
States / cities: Los Angeles, California • Gainesville, Florida • Tampa, Florida + 7 more

Conditions: Pregnancy, Phenylketonuria
Interventions: Metabolic camp; Behavioral
Lead sponsor: Emory University; Other
Eligibility: 11 Years and older · Female only
Enrollment: 200 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1995 – 2037
U.S. locations: 1
States / cities: Atlanta, Georgia

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Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency

Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria

Stress, Hypothalamic-pituitary-adrenal (HPA) Dysfunction, and Relapse in Alcoholism

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

PheCheck Feasibility Study

Testing of Four Home Phenylalanine Monitoring Prototype Devices

Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Effects of Kuvan on Melatonin Secretion

Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria

Behavioral Effects of Kuvan in Children With Mild Phenylketonuria

PheCheck™ Validation Study

The Early History of Universal Screening for Metabolic Disorders

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy

Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU

Early Check: Expanded Screening in Newborns

A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria

A Long-Term Study of JNT-517 in Participants With Phenylketonuria

A Study of JNT-517 in Participants With Phenylketonuria (PKU)

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria