30 closest matches · ranked by relevance
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
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
BH4 Deficiency · Hyperphenylalaninemia
Primary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) — 2; 2; 4; 3 Participants
Parkinson's Disease
Primary: Unified Parkinson's Disease Rating Scale (UPDRS) Change — 21.25; 22.4; 20.8; 22.31 units on a scale
Pitt Hopkins Syndrome
Primary: Safety and Tolerability — 15; 0; 4; 12 Participants
Pediatric Acute-Onset Neuropsychiatric Syndrome
Primary: Percentage Change in CY-BOCS Score From Baseline to Week 9 — 12.1; 31.1 Percentage Change at Week 9 to Baseline — p=0.0718
Phenylketonuria
Primary: Change in the Plasma Phenylalanine Concentration of PKU Subjects Fed the Glycomacropeptide Diet Compared With the Change When Fed the Amino Acid Diet — 62; -85 micro…
Phenylketonurias
Primary: Amount of Dietary Supplemented Phenylalanine (Phe)Tolerated in Children With Phenylketonuria — 20.9; 2.9 mg/kg/day — p=<0.001
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
Phenylketonuria
Primary: Plasma Phenylalanine Level (mg/dl) — 18.0; 17.2 mg/dl — p=>0.05
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
Phelan-McDermid Syndrome
Primary: Safety and Tolerability — 17; 17; 1; 3 Participants
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Molybdenum Cofactor Deficiency, Type A
Primary: Safety of ORGN001 (Formerly ALXN1101) — 1; 5; 6; 2 events
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
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
Alzheimers Disease · Dementia · Alzheimers Disease, Familial
Primary: Assess Cognitive Efficacy in Individuals With Mutations Causing Dominantly Inherited AD as Measured by the DIAN-Multivariate Cognitive Endpoint (DIAN-MCE); — 1.063…
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
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
Parenteral Nutrition-Associated Liver Disease
Primary: The Presence of Cholestasis at Age of 28 Days or When Full Enteral Nutrition is Achieved, Whichever is Longer. — 39; 45 participants who developed Cholestasis
Phenylketonuria
Primary: Dietary Phenylalanine (Phe) Tolerance at Week 26 — 80.6; 50.1 mg/kg/day
Phenylketonuria
Primary: Tabulation of the Incidence and Frequency of All AEs and SAEs That Occur Throughout the Study. — 83.8; 33.3; 6.3; 0.9 percentage of subjects reporting events
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Primary: Change From Baseline In Hemoglobin At Week 24 — 7.94; 10.33; 2.39 g/dL
Parenteral Nutrition-related Hepatitis
Primary: Disease Progression as Measured by Serum Levels of Hepatic Enzymes
Pyruvate Kinase Deficiency
Primary: All Cohorts: Number of Participants With at Least One Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, Related TEAEs and TEAEs With Severity Greater Than or…