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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 1 N=20 Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Hereditary Tyrosinemia, Type I
Primary: Maximum Observed Plasma Concentration (Cmax) — 1168.23; 1054.32 ng/mL
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=4 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Phase 2 N=40 Long-Term Study of Nitisinone to Treat Alkaptonuria
Alkaptonuria
Primary: Change in Total ROM Worse Hip — -9.1; 1.6 degrees
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 1 N=24 Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Hereditary Tyrosinemia, Type I
Primary: Maximum Observed Plasma Concentration (Cmax) — 1277.77; 1272.34; 1339.79 ng/mL
Phase 2 N=2 Orlistat for the Treatment of Type I Hyperlipoproteinemia
Hyperlipoproteinemia Type I · Hypertriglyceridemia
Primary: Fasting Serum Triglycerides — 705; 1827; 1511; 1007 mg/dL
N/A N=11 Familial Hyperlipidemia Family Registry
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 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 2 N=5 Nitisinone for Type 1B Oculocutaneous Albinism
Albinism · Vision Loss
Primary: Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 12 Months as Compared to Baseline. Participants Left and Right Eyes Will be…
Phase 2 N=60 Copper Histidine Therapy for Menkes Diseases
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
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 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 2 N=29 Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria
Progeria · Hutchinson-Gilford Syndrome
Primary: Proportion of Participants With Successful Rate of Weight Gain — 0.36 proportion of participants
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 3 N=173 Treatment of Nonalcoholic Fatty Liver Disease in Children (TONIC)
Fatty Liver
Primary: Number of Participants With Sustained Reduction in Alanine Aminotransferase (ALT) to Either 50% of Baseline Value or < 40 IU/L — 9; 15; 10 participants — p=0.26
Phase 2 N=18 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale
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
N/A N=14 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome
Hyperinsulinism-Hyperammonemia Syndrome
Primary: Tolerability of Vitamin E Based on Responses to a Subject/Parent-reported Symptom Questionnaire After Vitamin E Supplementation Compared to Baseline — 2 Participants
N/A N=55 Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1
Neurofibromatosis 1
Primary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
Phase 2 N=32 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency · Carnitine Palmitoyltransferase 2 (CPT2) Deficiency · Mitochondrial Trifunctional Protein (TFP) Deficiency
Primary: Energy Expenditure — -73; 107 kcal/day
Phase 1 N=4 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
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 2 N=9 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis
Primary: Plasma Pharmacokinetic Parameter: Cmax of Cysteamine — 42.02; 33.06 umol/L
N/A N=49 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001
Phase 2 N=36 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
Neurofibromatosis 1 · Neurofibroma, Plexiform
Primary: Median Time to Disease Progression — 13.2 Months
N/A N=28 Chronic Liver Disease in Urea Cycle Disorders
Urea Cycle Disorder
Primary: Liver Stiffness as Measured by Shear Wave Elastography — 13; 14 Participants
Phase 2 N=16 PTG-300 in Subjects With Hereditary Hemochromatosis
Hereditary Hemochromatosis
Primary: Effect of PTG-300 on Transferrin Saturation — -6.07 percent saturation
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