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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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=50 Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
Inflammatory Bowel Disease · Glycogen Storage Disease Type Ia
Primary: Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease — 11 participants testing positive
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 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=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=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)
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=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=60 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Gaucher Disease
Primary: Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1…
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 1 N=6 A Gene Therapy Study in Patients With Gaucher Disease Type 1
Gaucher Disease, Type 1
Primary: Number of Participants With Treatment-emergent Adverse Events Over Time — 6; 6; 6; 2 Participants
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 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=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
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 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
Phase 2 N=12 Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)
GSD1
Primary: Number of Participants With Adverse Events (AEs) Treatment-Emergent AEs (TEAEs) Serious TEAEs, Discontinuations Due to TEAEs, and Dose-Limiting Toxicities (DLTs) — 1; 1…
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
Phase 2 N=94 GM1 Ganglioside Effects on Parkinson's Disease
Parkinson Disease
Primary: Change in Unified Parkinson's Disease Rating Scale (UPDRS) (Part III) Motor Score From Baseline to Week 24 Assessed Off Medication. — -3.57; 1.85 Scores on a scale…
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
Phase 3 N=95 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
Gaucher Disease, Type 1
Primary: Overall Summary of Treatment Emergent Adverse Events — 3; 1; 3; 38 Participants
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 3 N=8 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease
Gaucher Disease, Type 1
Primary: The Difference in Hemoglobin Concentration [g/dL] — 9.49; 11.44 g/dL
N/A N=958 Gestational Diabetes Mellitus Trial (GDM)
Diabetes, Gestational
Primary: Number of Participants With Composite Neonatal Morbidity — 149; 163; 62; 55 Participants — p=0.14
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
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 2 N=36 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Primary: Percent Reduction From Baseline to Week 8 in Frequency of Total Seizures (Normalized to a 4-Week Rate) — 12.6; 0.0 percent reduction of seizures per 4 wks — p=0.5812