30 closest matches · ranked by relevance
Kohlmeier Degos Disease With Neurologic Involvement · Kohlmeier-Degos Disease
Primary: Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib — 1; 0; 0 Participants
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
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
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Infantile Neronal Ceroid Lipofuscinosis
Primary: Change in Cellular Granular Osmiophilic Deposits (GRODs) in Electron Micrographs of Peripheral White Blood Cells. — -0.3317 Average number of GRODs
Duarte Galactosemia
Primary: Children's Memory Scale Score — 106.76; 104.15; 105.99; 103.78 score on a scale
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
Phenylketonuria
Primary: Plasma Phenylalanine Level (mg/dl) — 18.0; 17.2 mg/dl — p=>0.05
Menkes Disease · Occipital Horn Syndrome
Primary: Treatment Related Adverse Events as Assessed by CTCAE v4.0 — 10; 6 adverse events
Wolfram Syndrome · Diabetes Mellitus · Optic Nerve Atrophy
Primary: Number of Participants With Treatment-related Adverse Events as Assessed by Liver Function Tests — 0; 0; 0; 2 Participants
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
MELAS · LHON · Leigh Syndrome
Primary: SAD: Change From Baseline in ECG Results by Timepoint: Corrected QT Interval According to Fridericia's Formula (QTcF) — 386.2; 395.0; 385.8; 399.3 msec
Neurofibromatosis Type 1 and Growing or Symptomatic, Inoperable PN
Primary: Percent of Participants With a 20% or More Change in Target Tumor Volume — 0; 8; 11; 0 Participants
Kabuki Syndrome
Primary: Benton Judgement of Line Orientation — 8.6; 11.6 score on a scale
Dementia
Primary: Rate of Change of Hippocampal Volume Slope — -70.2418748; -88.4738591; -94.0768115; -46.9484805 mm^3/year — p=0.095
Parkinson's Disease
Primary: L-DOPA Insensitivity — 5 Participants — p=0.00468
Sjögren-Larsson Syndrome
Primary: Number of Participants Experiencing a Serious Adverse Event (SAE). — 0; 0 Participants
Von Hippel-Lindau Disease
Primary: Number of Patients With Pancreatic Lesions Defined by Simple Cysts, Microcystic Adenomas, Neuroendocrine Tumors & Other Solid Lesions of the Pancreas Who Had Significant…
Behcet Disease
Primary: Number of Participants With Attacks — 0 Participants
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Schizophrenia · Bipolar Disorder
Primary: Positive and Negative Symptom Scores — 14.5; 11; 14.5; 14 units on a scale
Bipolar Depression
Primary: We Measured the Change in Rate Constant of Creatine Kinase in Individuals With Bipolar Depression Treated With CoQ 10 as Compared With Age and Gender Matched Controls…
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
Schizo-affective Disorder · Bipolar Disorder
Primary: Positive and Negative Symptom Scores at Baseline and at 2 Weeks, 4 Weeks, and 6 Weeks During Intervention 1 (Glycine or Placebo), Intervention 2 (Glycine or Placebo)…
GLUT1DS1 · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive
Primary: Neuropsychological Score of Sustained Attention — 11 Participants
Parkinson's Disease
Primary: Feasibiilty of Ketogenic Diet - Retention (Co-primary Endpoint) — 15 Participants
Histiocytic Disorders
Primary: Best Overall Response — 21; 5; 3; 6 Participants