30 closest matches · ranked by relevance
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 Participants
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Juvenile Neuronal Ceroid Lipofuscinosis
Primary: Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose — 17; 19 Participants — p=0.21
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 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
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
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor-Language (ML) Scale Score During 300 mg Dosing Period — 3.5; 3.1; -0.4 units on a scale — p=0.0002
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score. — 0.15; 1.30 change in score/48 wk — p=< 0.0001
Huntington Disease
Primary: Safety and Tolerability of PBT2 in Patients With HD — 32; 30; 28 participants
Biliary Atresia
Primary: The Percentage of Patients With Serum Total Bilirubin <1.5 mg/dL and With Native Liver at 6 Months After Portoenterostomy — 58.6; 48.6 percentage of participants — p=0.43
Alzheimer's Disease
Primary: Drug-Placebo Difference in Change From Baseline to Week 4 in the Composite Amyloid Burden of the Brain — -0.03; 0.02 SUVr — p=0.22
Down Syndrome · Amyloid Beta-protein
Primary: Sensitivity of the Independent Visual Assessment of Detecting Cerebral Amyloid-beta in Individuals With Down Syndrome and Specificity in Subjects Without Down Syndrome…
Duchenne Muscular Dystrophy · Becker Muscular Dystrophy
Primary: Change From Baseline in 6MWD at Week 48 — -41.81; -12.86; -42.56 meters — p=0.4756
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
Unverricht-Lundborg Disease
Primary: Percent Change From Baseline to the End of Treatment Period on the Action Myoclonus Score (Unified Myoclonus Rating Scale (UMRS) Section 4) — 17.45; -4.60; 12.34 Percent…
Benign Epilepsy With Centrotemporal Spikes · Language Problems · Learning Disorders
Primary: Interictal Epileptiform Discharge (IED) Frequency — 0; 0; 0; 0 IEDs per 5 minutes — p=0.04
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
Niemann-Pick Disease, Type C
Primary: Parts A/B: Change From Baseline to Week 52 in 4-Item Composite Score of Niemann Pick Type C Severity Scale (NPC-SS) Score — 8.1; 8.8; -0.1; 0.0 score on a scale
Alzheimer's Disease or Vascular Dementia
Primary: Change in Alzheimer Disease Assessment Scale-cognitive (ADAS-cog) Score at Week 12 Visit Compared to Baseline — -0.05; -2.25 score on a scale
Becker Muscular Dystrophy
Primary: Change From Baseline in Muscle Tissue PGC1alpha (AU) at 8 Weeks — 0.55; 0.86 AU — p=0.0434
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Leber Congenital Amaurosis
Primary: Overall Safety of Adeno-Associated Virus Vector (AAV-OPTIRPE65) - Number of Participants With a Safety Event — 0; 0; 1; 0 Participants
Smith-Lemli-Opitz Syndrome
Primary: Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). — 8.6; 8.6 units on a scale — p=1.0
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
Becker Muscular Dystrophy
Primary: Plasma Follistatin
Basal Cell Nevus Syndrome
Primary: Number of New BCCs Per Participant — 2.84; 4.03 New basal cell carcinomas
Achromatopsia
Primary: Number of Participants Meeting the Primary Outcome Defined as Any of the Below Events Occurring During the 6 Weeks Following Administration, at Least Possibly Related to…
Retinitis Pigmentosa · X-linked Genetic Diseases
Primary: Rate of LOSS of 31 Hertz Cone Electroretinographic Function — 0.028; 0.022 log microvolts/year — p=0.30