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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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
N/A N=150 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Erythropoietic Protoporphyria · EPP · X-Linked Protoporphyria
Primary: The Hospital Anxiety and Depression Scale (HADS) — 4.6; 1.9 score on a scale
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
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 3 N=3 Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency
Arginase 1 Deficiency
Primary: Change From Baseline in Plasma Arginine Concentrations in Subjects <24 Months of Age With Arginase 1 Deficiency (ARG1-D). — -221.53 μM
Phase 3 N=89 Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
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 3 N=68 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Phase 2 N=65 A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum
Pseudoxanthoma Elasticum
Primary: Number of Participants With Treatment-emergent Adverse Events (TEAEs) in Participants Receiving DS-1211b — 8; 7; 6; 6 Participants
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 2 N=20 Pentoxifylline for Primary Biliary Cirrhosis
Primary Biliary Cirrhosis
Primary: Change in Serum Alkaline Phosphatase Levels. — -57.3 U/L — p=0.001
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
Early Phase 1 N=12 Peripheral Benzodiazepine Receptors (PBR28) Brain PET Imaging With Lipopolysaccharide Challenge for the Study of Microglia Function in Alzheimer's Disease
Alzheimer Disease
Primary: Microglial Activation Reserve Index (MARI) — 17.7; 30.1 percentage of MARI — p=0.14
Phase 2 N=6 Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Phelan McDermid Syndrome
Primary: ABC - Social Withdrawal Subscale — 10.31; 4.6; 14.8; 6.2 score on a scale
N/A N=3 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
Lysosomal Storage Disease · Peroxisomal Disorder
Primary: Donor (Allogeneic) Hematopoietic Engraftment — 1 participants
N/A N=187 PCORI Urea Cycle Disorder Study
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Phase 2 N=35 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Albinism · Inborn Errors of Metabolism · Oculocutaneous Albinism
Primary: Change in Forced Vital Capacity (36 Months) — -23.52; -20.93 % of predicted volume
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=119 Seladelpar (MBX-8025) in Subjects With Primary Biliary Cholangitis (PBC)
Primary Biliary Cirrhosis
Primary: Relative Change From Baseline in Serum Alkaline Phosphatase (ALP) at Week 8 — -26.06; -33.38; -41.42 percentage change from baseline — p== 0.2242
N/A N=56 In-Home Care for Patients With PSP and Related Disorders
Progressive Supranuclear Palsy · Dementia With Lewy Bodies · Multiple System Atrophy
Primary: Change in Patient Quality of Life as Measured by the EuroQol 5-D (EQ-5D) Scale Between Baseline (Visit 1) and 1 Year (Visit 4) — 1; 0.5; 0.5; 0 units on a scale — p=0.59
Phase 2 N=8 Safety & Efficacy Study of ORGN001 (Formerly ALXN1101) in Pediatric Patients With MoCD Type A Currently Treated With rcPMP
Molybdenum Cofactor Deficiency, Type A
Primary: Safety of ORGN001 (Formerly ALXN1101) — 1; 5; 6; 2 events
N/A N=10 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
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=2 Use of Omegaven for Treatment With Parenteral Nutrition Associated Liver Disease
Parenteral Nutrition-related Hepatitis
Primary: Disease Progression as Measured by Serum Levels of Hepatic Enzymes
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=119 Early Identification of Myocardial Impairment in PBC
Primary Biliary Cholangitis · Cardiovascular Abnormalities
Primary: The Incidence of Cardiac Events — 0; 0; 0; 0 Participants — p=0.001
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
N/A N=157 Defective Atypical Protein Kinase C (PKC) Activation in Diabetes and Metabolic Syndrome
Diabetes Mellitus, Type 2
Primary: Alterations in PKC-zeta mRNA in Vastus Lateralis Skeletal Muscles — 1.76; 3.58; 2.14; 2.22 arbitrary units/ng rRNA — p=.001