30 closest matches · ranked by relevance
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
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Mitochondrial Diseases
Primary: McMaster Gross Motor Function (GMFM 88) — -0.002; -0.12 units on a scale — p=0.95
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
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
Neurofibromatosis 1
Primary: Mitochondrial Respiration Efficiency (as Measured by OCR). — 67.7167; 53.7000; 73.3358; 68.5789 picomole/minute — p=<0.01
MItochondrial Myopathies
Primary: Change of Peak Workload (in Watts/kg) During Exercise Testing — 0.0090; 0.020; -0.0300; 0.1050 Watts/kg — p=0.7321
Cancer · Skin Fibroblasts · Muscle Weakness
Primary: Change in PCr Recovery Tc Measurement From Baseline to 12 Week NR Supplementation Using the 31P-MRS Skeletal Muscle Submaximal Exercise. — 60; 73 Seconds
MELAS Syndrome
Primary: Clinical Safety of TIV Vaccine — 4; 0; 0; 0 Participants
Inherited Mitochondrial Disease
Primary: Number of Participants With Treatment-emergent Adverse Events (TEAEs) — 91 Participants
Mitochondrial Myopathy
Primary: Change in Distance Walked (Meters) on the 6-minute Walk Test (6MWT) — 13.5; 36.5; 64.5; 20.4 meters
Mitochondrial Diseases
Primary: Average TSST-induced Elevation in Cortisol — 37.44; 33.86; 42.83; 45.42 ng*min/mL
Autism Spectrum Disorder
Primary: Change in Mitochondrial Activity in Study Patients: Citrate Synthase — 40.56; 29.09; 27.41; 37.78 nmoles/min/mg protein
Primary Mitochondrial Disease
Primary: Distance Walked on the 6-minute Walk Test (6MWT) by Visit — 394.1; 378.2 meters
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
Leber's Hereditary Optic Neuropathy
Primary: Number of Treatment Related Adverse Events — 1; 1; 1; 5 Participants
Leukodystrophy · White Matter Disease · 4H Syndrome
Primary: Changes in Diagnosis Status (Resulting From WGS) — 45 Participants
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Primary: Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) — 13; 5; 7; 7 Participants
MELAS Syndrome
Primary: Mean Change in Cerebral Lactate Concentration (as Measured by Magnetic Resonance Spectroscopy) — -0.09; 0.16; -0.49 IU
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
ALS
Primary: ALS Functional Rating Scale-revised Version (ALSFRS-R) Slope — -0.39; -0.57 points per month — p=0.32
Optic, Atrophy, Hereditary, Leber
Primary: Change From Baseline in ETDRS Visual Acuity (Quantitative Score) at Week 48 — 0.380; 0.392 LogMAR — p=0.8890
Neuromuscular Disease
Primary: Urine 15-F2t Isoprostane Concentration — 2.7; 2.6 ng/mg Cr — p=0.88
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
Optic, Atrophy, Hereditary, Leber
Primary: Change From Baseline in ETDRS Visual Acuity (Quantitative Score) at Week 48 — -0.219; -0.211 LogMAR — p=0.8783
GM2 Gangliosidosis · Tay-Sachs Disease · Sandhoff Disease
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.71 score on a scale — p=0.044
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Leber Hereditary Optic Neuropathy
Primary: Change From Baseline of the Best Corrected Visual Acuity (BCVA) Reported With Log of the Minimal Angle of Resolution (LogMAR) at 1.5 Years Post-treatment, in the Second…
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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