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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=7 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome
Focal Segmental Glomerulosclerosis · Steroid Resistant Nephrotic Syndrome
Primary: Focal Segmental Glomerulosclerosis Permeability Factor (FSPF) — 0.69; 0.35 Palb — p=0.009
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 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=6 Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
Classic Galactosemia
Primary: Number of Participants With Treatment-emergent Adverse Events — 1; 0; 0; 2 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
Phase 2 N=10 Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)
Gaucher Disease
Primary: Evaluation of Long Term Safety — 0; 10; 1; 1 Participants
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=44 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 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=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 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…
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=16 A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Phase 2 N=7 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Phase 3 N=6 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease
Gaucher Disease
Primary: Number of Severe Adverse Events (SAE) — 1 events
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
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=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 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=12 Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type IA · Von Gierke's Disease (GSD Type Ia)
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs and Discontinuations Due to TEAEs — 3; 3; 3; 3 Participants
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
Phase 3 N=494 Naturlose (D-Tagatose) Efficacy Evaluation Trial
Type 2 Diabetes
Primary: Change in Hemoglobin A1C Level From Baseline — 0.09; -0.11 percentage of change from baseline — p=<0.05
Phase 2 N=26 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients
Gaucher Disease, Type 1 · Cerebroside Lipidosis Syndrome · Glucocerebrosidase Deficiency Disease
Primary: Percentage of Participants Demonstrating A Meaningful Clinical Response — 77 percentage of participants
N/A N=27 Erythrocyte and Adipocyte G6PD Activity Levels in Obesity
Diabetes · Obesity
Primary: Measure Erythrocyte G6PD Levels in Diabetic vs. Non-diabetic Morbidly Obese Patients Undergoing Laparoscopic Gastric Bypass. — 3.12; 0.67; 22; 13 nM/min/mg — p=<0.05
N/A N=106 Lipid Metabolism in Gestational Diabetes
Gestational Diabetes · Hyperlipidemia
Primary: Cholesterol — 204; 201 mg/dl
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=106 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism
Congenital Hyperinsulinism · Hyperinsulinism · Persistent Hyperinsulinemic Hypoglycemia of Infancy
Primary: The Accuracy of FDOPA PET to Identify Focal Forms of Hyperinsulinism — 40; 6; 3; 46 Participants
Phase 2 N=83 IV Glucose for Dehydration Treatment
Dehydration
Primary: Measurement of Serum Ketones Before and After Administration of Intravenous Fluids for Acute Gastroenteritis — 1.10; 2.39 mmol/L — p=0.0003
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