N/A N=12 Lactic Acidosis During and After Seizures
Epilepsy
Primary: Salivary Lactic Acid Levels With Seizures — 8.16 mmol/L
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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 4 N=90 Late-Onset Treatment Study Extension Protocol
Pompe Disease (Late-Onset) · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis Type II
Primary: Summary of Participants Reporting Treatment-Emergent Adverse Events For Participants Treated With Alglucosidase Alfa During Study AGLU02704 (NCT00158600) — 60; 37; 21…
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 2 N=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 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 3 N=90 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Pompe Disease (Late-onset) · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Summary of Patients Reporting Treatment-Emergent Adverse Events — 60; 30; 32; 17 participants
Phase 4 N=13 High Dose or High Dose Frequency Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis 2 Acid Maltase Deficiency
Primary: Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment — 0; 0; 0; 1…
N/A N=30 The Various Effects of Gaseous Albuterol on Serum Lactate
Asthma
Primary: Number of Subjects With a Change From Baseline Serum Lactate Following a One Hour Albuterol Nebulizer Treatment. — -0.15; 0.77 mmol/L
Phase 3 N=144 Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
Prematurity · Neurodevelopmental Disorder · Carnitine Deficiency
Primary: Time to Regain Birthweight in Infants Who Receive L-carnitine Supplementation Compared to Controls — 8.12; 8.4 days — p=<0.05
Phase 2 N=38 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
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 3 N=9 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency · Wolman Disease
Primary: Percentage Of Participants In The Primary Efficacy Analysis Set (PES) Surviving To 12 Months Of Age — 67 Percentage of participants
N/A N=53 Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
N/A N=34 Blood Lactate Concentrations With and Without Exercise in Parkinson's Disease and Multiple Sclerosis Patients
Parkinson's Disease · Multiple Sclerosis
Primary: Blood Lactate Response — 1.7; 1.6; 1.2; 2.3 mmol/L
Phase 3 N=5 Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A
Molybdenum Cofactor Deficiency, Type A
Primary: Overall Survival — 3 Participants
N/A N=39 ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 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 3 N=5 GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
N/A N=30 Pharmacokinetics of Acetaminophen in Pediatric Patients With Congenital Heart Disease
Congenital Heart Disease
Primary: Acetaminophen Serum Concentrations — 19; 17; 13; 13 mcg/mL
Phase 2 N=94 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy
Spinal Muscular Atrophy
Primary: Safety Labs
N/A N=40 Umbilical Cord Blood Transplant for Congenital Pediatric Disorders
Congenital Pediatric Disorders
Primary: Overall Survival at 100 Days After Umbilical Cord Blood Transplant in Pediatric Patients. — 0.947 probability of overall survival
Phase 3 N=189 L-citrulline for Prevention of Sequelae of Acute Lung Injury in Pediatrics Undergoing Cardiopulmonary Bypass for Heart Defects
Acute Lung Injury
Primary: A Composite Variable Consisting of the Longer of Either (1) Length of Time on Mechanical Ventilation or (2) Length of Inotrope Use. — 3351.1; 3549.6 Minutes — p=0.4930
Phase 2 N=66 Milrinone in Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia · Persistent Pulmonary Hypertension of the Newborn · Hypoxemic Respiratory Failure
Primary: Oxygenation Response — 4.2; 2.6 Change in Oxygenation Index
N/A N=41 Fatty Acid Oxidation Defects and Insulin Sensitivity
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Primary: Glucose Disposal Rate (Rd)- the Rate of Glucose Infusion to Maintain Euglycemia During Steady State Insulin Infusion in mg/Min — 709; 429; 842; 497 mg/min — p=0.136
Phase 2 N=13 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
Phase 2 N=36 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
Inherited Mitochondrial Disease, Including Leigh Syndrome
Primary: Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV — -0.3; 0.1; -0.6; 0.0 units on a scale — p=0.1875
N/A N=566 Intervention and Outcomes in Duarte Galactosemia
Duarte Galactosemia
Primary: Children's Memory Scale Score — 106.76; 104.15; 105.99; 103.78 score on a scale
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=21 N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
Transposition of Great Vessels · Congenital Heart Disease
Primary: Maximum Decline in Measured Cardiac Output — 0.68; 0.29 L/min/m2