N/A N=10 Tetrahydrobiopterin Treatment in Children With Idiopathic Cognitive Developmental Disorders
Autism Spectrum Disorder
Primary: Preschool Language Scales — 7.6 Raw score units / 16 weeks
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=46 Sapropterin as a Treatment for Autistic Disorder
Autistic Disorder
Primary: Clinical Global Impression -- Improvement (CGI-I) Scale — 5; 3 participants — p=<.35
Phase 2 N=8 A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia
BH4 Deficiency · Hyperphenylalaninemia
Primary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) — 2; 2; 4; 3 Participants
Phase 2 N=17 Tetrahydrobiopterin in Patients With Chronic Kidney Disease (CKD) and Albuminuria
Kidney Disease · Albuminuria
Primary: The Primary Outcome Measure is Level of Albuminuria. — 927.9; 897.1 ratio
Phase 2 N=12 Study of Kuvan Treatment in Adults With GTPCH Deficiency
GTP Cyclohydrolase Deficiency
Primary: Change in BH4 Levels in Cerebral Spinal Fluid — 6; 10.7; 5.3; 13.2 nmol/L
Phase 2 N=12 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Tetrahydrobiopterin Deficiencies · Hyperphenylalaninemia, Non-Phenylketonuric
Primary: Blood Phenylalanine(Phe) Levels Measured at Specified Timepoints — 132.9; 72.2; 315.0; 104.1 μmol/L
N/A N=28 Rhode Island Diastolic Dysfunction - Heart Failure
Heart Failure · Cardiovascular Disease
Primary: Change From Baseline in Oxygen Consumption During Maximal Bike Exercise — 14.45; 14.18 mL/kg/min — p=0.823
N/A N=58 Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Phenylketonuria
Primary: Change From Baseline in BMI at 12 Months — -0.65574 kg/m^2 — p=0.692782
Phase 2 N=48 A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction
Endothelial Dysfunction
Primary: Area Under the Curve (AUC0-12hrs) of Plasma BH4 Concentration — 633; 993 nM*hr — p=<0.001
Phase 3 N=12 Betaine and Peroxisome Biogenesis Disorders
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Phase 2 N=14 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
N/A N=10 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
Phase 2 N=32 A Phase 2 Study of the Effects of 6R-BH4 in Subjects With Sickle Cell Disease
Sickle Cell Disease
Primary: Number of Subjects With Treatment Emergent Adverse Events (TEAEs) — 27; 18; 20; 15 Participants
Phase 3 N=206 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Phenylketonuria
Primary: Change in Attention-Deficit Hyperactivity Disorder Rating Scale-IV (ADHD-RS) / Adult ADHD Self-Report Scale (ASRS) Total Score From Baseline to Week 13 — -4.9; -9.1…
Phase 4 N=10 Effects of Kuvan on Melatonin Secretion
Phenylketonuria (PKU)
Primary: Serum Melatonin at the End of 4 Weeks — 266.9; 205.7; 220.4; 301.2 pg/ml
Phase 1 N=16 Study on Sapropterin Dihydrochloride Oral Suspension in Healthy Subjects
Bioavailability
Primary: Uncorrected Sapropterin AUC0-t — 989.77; 837.20; 835.52; 791.64 hr*ng/mL
N/A N=6 Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Phenylketonuria
Primary: Plasma Phenylalanine Level (mg/dl) — 18.0; 17.2 mg/dl — p=>0.05
Phase 2 N=32 Exercise Intolerance in Renal Failure
Kidney Failure, Chronic
Primary: Change in Resting Muscle Sympathetic Nerve Activity (MSNA) — -7.5; 3.2 bursts/minute
Phase 4 N=7 The Effectiveness of Kuvan in Amish PKU Patients
Phenylketonuria
Primary: Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response) — 0; 0; 0 Participants
N/A N=65 CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0 — 1.15; 1.38; 1.14; 0.86 Events per person — p=0.50
Phase 1 N=42 Study on Sapropterin Dihydrochloride Oral Suspension in Healthy Subjects Under Fed Conditions
Bioequivalence
Primary: Uncorrected and Baseline-corrected Sapropterin AUCt — 819.78; 805.79; 757.73; 755.15 hr*ng/mL
Phase 3 N=56 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Phenylketonuria
Primary: Dietary Phenylalanine (Phe) Tolerance at Week 26 — 80.6; 50.1 mg/kg/day
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Phase 2 N=190 A Phase 2 Study of the Effects of Sapropterin Dihydrochloride on Symptomatic Peripheral Arterial Disease
Intermittent Claudication
Primary: Change in Peak Walking Time (PWT) From Baseline — 5.394; 5.712; 1.121; 1.493 minutes — p=0.727
Phase 3 N=8 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Phase 3 N=90 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
Phenylketonurias
Primary: Amount of Dietary Supplemented Phenylalanine (Phe)Tolerated in Children With Phenylketonuria — 20.9; 2.9 mg/kg/day — p=<0.001
Phase 4 N=59 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
Phenylketonuria
Primary: Percentage of Participants With at Least 30 Percent Reduction From Baseline in Blood Phenylalanine (Phe) Level — 75 Percentage of participants
Phase 3 N=89 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
Phenylketonurias
Primary: Change in Blood Phenylalanine Levels From Baseline to Week 6. — 843; 888; 607; 891 micromole per liter — p=<0.001
Phase 2 N=45 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
GLUT1DS1 · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive
Primary: Neuropsychological Score of Sustained Attention — 11 Participants
Phase 3 N=68 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants