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
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 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=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
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
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 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
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=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=46 Sapropterin as a Treatment for Autistic Disorder
Autistic Disorder
Primary: Clinical Global Impression -- Improvement (CGI-I) Scale — 5; 3 participants — p=<.35
Phase 3 N=25 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease
Gaucher Disease, Type 1
Primary: Change From Baseline to 12 Months in Hemoglobin Concentration for the 60 U/kg Treatment Group. — 2.429 g/dL — p=<0.0001
Phase 3 N=32 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease
Gaucher Disease
Primary: Change From Baseline in Spleen Volume Measured by MRI. — -26.91; -38.01 percentage of change — p=<0.0001
Phase 2 N=13 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe Disease
Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL
Phase 3 N=34 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher Disease, Type 1
Primary: Mean Change From Baseline to Month 9 in Hemoglobin (Hgb) Concentration for Each Treatment Group. — 1.624; 1.488 gram per deciliter (g/dl)
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=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=40 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Gaucher Disease
Primary: Participants Who Experienced at Least One Adverse Event — 34 participants
N/A N=46 Neurologic Injuries in Adults With Urea Cycle Disorders
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
Phase 4 N=12 Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Phase 2 N=20 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome
Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)
Primary: Reported Change in Seizures Frequency From Baseline at 13 Weeks — 4.4; 189.5 seizures/two weeks
Phase 2 N=19 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Metabolic Disease · Seizures
Primary: Change From Baseline on the Adaptive Behavior Assessment System (ABAS) Test at the End of the Study Drug and Placebo Treatment Periods — 5.2; 4.5 scores on a scale
Phase 3 N=44 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
N/A N=20 Suspected Deficient Activation of Vitamin D in Patients With Secondary Hyperparathyroidism
Secondary Hyperparathyroidism
Primary: The Level of Activated Vitamin D (1,25-dihydroxyvitamin D) After Parathyroid Hormone Infusion at Baseline, 4 and 8 Hours — 40.6; 46.2; 39.8; 58.8 pg/ml — p=0.1
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
N/A N=32 Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Phenylketonuria
Primary: Change in the Plasma Phenylalanine Concentration of PKU Subjects Fed the Glycomacropeptide Diet Compared With the Change When Fed the Amino Acid Diet — 62; -85 micro…
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
Phase 2 N=14 A Double-blind Study to Evaluate the Safety of Glutamic Acid Decarboxylase Gene Transfer in Parkinson's Participants
Parkinson's Disease
Primary: Incidence of Adverse Events Related to the Treatment — 0; 1; 0 Participants
Phase 3 N=7 Ciclosporin in HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP)
HTLV I Associated Myelopathy
Primary: Number of Patient With Lack of Objective Clinical Improvement — 0 Participants
Phase 2 N=2 Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders
Schizo-affective Disorder · Bipolar Disorder
Primary: Positive and Negative Symptom Scores at Baseline and at 2 Weeks, 4 Weeks, and 6 Weeks During Intervention 1 (Glycine or Placebo), Intervention 2 (Glycine or Placebo)…
Early Phase 1 N=2 Targeting a Genetic Mutation in Glycine Metabolism With D-cycloserine
Schizophrenia · Bipolar Disorder
Primary: Positive and Negative Symptom Scores — 14.5; 11; 14.5; 14 units on a scale