30 closest matches · ranked by relevance
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
Prader-Willi Syndrome
Primary: Change in Weight — -.5 kg — p=.07
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
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…
PreDiabetes · Overweight and Obesity
Primary: Number of Participants Recruited and Retained — 8; 9 Participants
GLUT1DS1 · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive
Primary: Neuropsychological Score of Sustained Attention — 11 Participants
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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
Wilson Disease
Primary: Percentage Of Participants With Normalized Concentrations Of NCC — 85.7 percentage of participants
Neurofibromatosis 1
Primary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
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
Prader-Willi Syndrome
Primary: Hyperphagia Questionnaire (HQ-CT) Change From Baseline at Visit 7 (Week 13) — -5.94; -4.27 score on a scale — p=0.1983
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
Diabetes Complications · Hypoglycemia
Primary: Percent Enrichment of Bicarbonate as Measured by Magnetic Resonance Spectroscopy (MRS) — 61.9 % enrichment — p=0.0053
Down Syndrome · Trisomy 21
Primary: Non-HDL Cholesterol — 128; 107 mg/dl
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
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Metabolic Syndrome · Autonomic Neuropathy
Primary: Four Square Step Test (FSST) — 11.04; 14.29 seconds
Metabolic Syndrome · Type 2 Diabetes · Cardiovascular Disease
Primary: Insulin Resistance — 6.06; 5.72 HOMA-IR index
Cryptogenic Sensory Peripheral Neuropathy in Metabolic Syndrome
Primary: Intraepidermal Nerve Fiber Density (IENFD) — -0.6064; -0.396 fibers/mm/year (52 weeks)
Photosensitive Epilepsy
Primary: % Change in Frequency of Handwaving Episodes — -66.2 % change in hand waving episodes — p=<0.001
Metabolic Diseases · Diabetes Mellitus · Endocrine System Diseases
Primary: Plasma Insulin — 75.4; 50.1; 43.5; 114.0 uU/ml
Prader-Willi Syndrome
Primary: Post-treatment Total Score on the Hyperphagia Questionnaire for Clinical Trials (HQ-CT) — 15.9; 14.7 score on a scale
Kabuki Syndrome
Primary: Benton Judgement of Line Orientation — 8.6; 11.6 score on a scale
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale
Wilson Disease
Primary: Mean Daily Copper Balance: Day 1 Through Day 8 — 0.8025; 0.3062 milligrams/day
Confirmed Genetic Diagnosis of Prader-Willi Syndrome
Primary: Percent Change From Baseline to End of Treatment in Mean Body Weight — -4.09; -0.38; 3.56; 3.00 Percent (%) change in mean body weight — p=0.1045
Bardet-Biedl Syndrome · POMC Deficiency Obesity · PCSK1 Deficiency Obesity
Primary: Percentage of Participants With Greater Than or Equal to (≥) 0.2 Reduction of BMI Z-Score From Baseline to Week 52 — 85.7; 80.0 percentage of participants
Type 2 Diabetes
Primary: The Percentage Change in HbA1c Level From Baseline to 12 Weeks — -11.1; 0.0 percentage change
Angelman Syndrome · Nervous System Diseases
Primary: Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills — 5.7; 4.7; 5.8…