Phase 2 N=8 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
Inherited Metabolic Disorders (IMD)
Primary: Number of Participants With Engraftment — 6; 2 Participants
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Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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
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 2 N=46 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
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
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 3 N=135 Stem Cell Transplant for Inborn Errors of Metabolism
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Overall Survival — 120; 92; 81 Participants
N/A N=187 PCORI Urea Cycle Disorder Study
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
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=20 EPI-743 for Metabolism or Mitochondrial Disorders
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
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=47 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
Hemophagocytic Lymphohistiocytosis · Chronic Active Epstein-Barr Virus Infection · Chronic Granulomatous Disease
Primary: Percentage of Participants With Overall Survival (OS) — 80.4; 66.7 percentage of participants
Phase 2 N=6 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
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 2 N=13 Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Late Infantile Metachromatic Leukodystrophy
Primary: Relative Changes (%) in Gross Motor Function Measurement (GMFM) — -2.98; -5.42; -5.28 Relative % change in total GMFM-88 SOT — p=0.4013
Phase 2 N=6 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
N/A N=314 Primary Immunodeficiency in Kuwait
Primary Immune Deficiency Disorder
Primary: Number of Participants With Different Epidemiological Features — 287; 100; 68; 56 patients
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 2 N=12 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Phase 1 N=13 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Metachromatic Leukodystrophy (MLD)
Primary: Number of Participants With Treatment-emergent Adverse Events (TEAEs) — 4; 5; 4 participants
Phase 1 N=11 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler
Hurler Syndrome
Primary: Percentage of Adherence to the Scheduled Weekly Infusion by the Participants — 99 percentage
Phase 2 N=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 participants
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=21 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo Syndrome
Primary: Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III) — 0; 2; 1 participants — p=0.4615
Phase 2 N=61 Heart Rate Variability in Response to Metformin Challenge
Fibromyalgia · Mitochondrial Diseases · Movement Disorders
Primary: Heart Rate Variability (Time Domain) — 0.92; 0.83 msec/msec — p=0.77
N/A N=177 Diabetes and Lipid Accumulationand Heart Transplant
Diabetes Mellitus · Heart Failure
Primary: Myocyte Lipid Accumulation as Oil Red-O Positive Biopsie — 54; 21; 0 Endomyocardial Biopsies
Phase 4 N=54 Metabolic Analysis for Treatment Choice in Gestational Diabetes Mellitus
Gestational Diabetes · Diabetes, Gestational · Pregnancy in Diabetes
Primary: Proportion of Women Who Are Eligible, Screened, Enroll and Remain in the Study — 25; 26 Participants — p=0.9
N/A N=39 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
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