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=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=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
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 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=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=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
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=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…
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=12 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Argininosuccinic Aciduria · Amino Acid Metabolism, Inborn Errors · Urea Cycle Disorders
Primary: Measures of Liver Function: AST and ALT — 36.2; 52; 31.7; 57.86 IU/L
Phase 3 N=20 Phenylbutyrate Therapy for Maple Syrup Urine Disease
Maple Syrup Urine Disease
Primary: 0-24 Hour AUC Leucine (Samples Collected at 0, 2, 4, 8, 12, 16, 20, and 24 Hours) — 6217; 4616 micromoles*hour/L
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
Phase 2 N=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 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 2 N=52 A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency
Pyruvate Kinase Deficiency
Primary: Percentage of Participants Experiencing at Least One Adverse Event (AEs) in the Core Period — 96.3; 100.0 percentage of participants
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 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
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 3 N=3 Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency
Arginase 1 Deficiency
Primary: Change From Baseline in Plasma Arginine Concentrations in Subjects <24 Months of Age With Arginase 1 Deficiency (ARG1-D). — -221.53 μM
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 3 N=98 TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PID
Primary Immune Deficiency Disorder · Hematopoietic Stem Cell Transplantation
Primary: Overall Survival — 86; 86; 87 percentage of survival probability — p=0.95
Phase 1 N=6 AMD 3100 for Treatment of Myelokathexis
Neutropenia
Primary: Blood Neutrophil Counts. — 4.48 10^9 per Liter — p=<0.05
Phase 2 N=12 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID
Immunologic Deficiency Syndromes
Primary: Survival — 12 Participants
Phase 2 N=109 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease
Huntington Disease
Primary: Safety and Tolerability of PBT2 in Patients With HD — 32; 30; 28 participants
N/A N=8 Pilot Study PBSCT With TCRab Depletion For Hemoglobinopathies
Sickle Cell Disease · Thalassemia Major
Primary: Rate of Graft Failure — 2; 0 participants
Phase 2 N=95 Haploidentical Bone Marrow Transplantation in Sickle Cell Patients (BMTCTN1507)
Sickle Cell Disease
Primary: Percentage of Participants With Two-Year Post-Transplant Event Free Survival (EFS) — 88.0; 79.3 Percentage of Participants
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