30 closest matches · ranked by relevance
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…
Angelman Syndrome
Primary: Bayley Cognitive Age Equivalent at 1 Year — 19; 19 months — p=0.75
Primary Disease or Condition Being Studied: Angelman Syndrome (AS)
Primary: Clinical Global Impressions- Improvement in Angelman Syndrome (CGI-I-AS) Rating at 12 Weeks — 1; 2; 11; 11 Participants
Angelman Syndrome
Primary: Maximum Dose of Levodopa/Carbidopa That Can be Tolerated (Without Any Dose Limiting Toxicity) by at Least 3 Subjects. — 15 mg/kg/day
Angelman Syndrome
Primary: Bayley Scales of Infant and Toddler Development, 2nd Edition (BSID-II) Score at Baseline, 8 Weeks After Treatment, and at 16 Week Follow-up — 26.4; 31.7; 30.7; 18.9…
Angelman Syndrome
Primary: Incidence of Adverse Events in Placebo and Active Treatment Groups — 25; 27; 25; 23 Participants
Phelan McDermid Syndrome
Primary: ABC - Social Withdrawal Subscale — 10.31; 4.6; 14.8; 6.2 score on a scale
Phelan-McDermid Syndrome · Epilepsy
Primary: Number of Adverse Events — 19 events
Sphingomyelin Lipidosis
Primary: Percent Predicted (% Predicted) Hemoglobin (Hb) and Altitude-Adjusted Diffusing Capacity of the Lung for Carbon Monoxide (DLco) at Baseline — 48.45; 49.44 % Predicted DLco
Hunter Syndrome
Primary: Number of Participants Who Were Screened For The Follow-On Study With an Investigational Agent — 17 participants
Sphingomyelin Lipidosis
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Treatment Emergent Serious Adverse Events (TESAEs) and Adverse Events of Special Interest (AESIs)…
Fragile X Syndrome · Autism Spectrum Disorders
Primary: Clinical Global Impression- Severity Scale (CGI-S) — 7.0 units on a scale
Sanfilippo Syndrome
Primary: Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III) — 0; 2; 1 participants — p=0.4615
Fragile X Syndrome
Primary: Contingency Naming Test (CNT) Performance Score — 37.05; 40.50; 66.94; 61.56 correct responses per minute
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Hypophosphatasia
Primary: Effect of Asfotase Alfa Treatment on Skeletal Manifestations of Hypophosphatasia (HPP) — 2.00 scores on a scale
22q13 Deletion Syndrome · Phelan-McDermid Syndrome
Primary: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 — 15.78; 11.22; 7.61; 9.70 score on a scale
Spinal Muscular Atrophy (SMA)
Primary: Motor Function Assessments- Test for Infant Motor Performance Screening Items (TIMPSI) — 36.06; 88.47; 40.54; 89.44 scores on a scale
Sanfilippo Syndrome Type A
Primary: Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores — 0.17; 1.19; -1.72…
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Phelan-McDermid Syndrome
Primary: Change in Aberrant Behavior Checklist — -7.44; -2.42; -5; -1.71 score on a scale
Phelan-McDermid Syndrome
Primary: Safety and Tolerability — 17; 17; 1; 3 Participants
Autism Spectrum Disorder
Primary: Change in Ohio Autism Clinical Impressions Scale - Improvement (OACIS-I) Average Score From Baseline — 0.28; 0.28; 0.28; 0.33 score on a scale
Autism Spectrum Disorder
Primary: Percentage of Participants Randomized — 100; 100 percentage of participants randomized
Autism Disorder
Primary: M50 Latency (Left Hemisphere) — 90.9; 87.4; 89.3 ms
Alport Syndrome · Kidney Disease
Primary: Number of Subjects Developing Microalbuminuria During Study Period — 35 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
Tuberous Sclerosis Complex · Self-injury · Autism
Primary: Number of Participants With Compliance to the Treatment Protocol. — 100; 58; 58 percentage of completed visits/measures
Autism · Cognition Disorder
Primary: Change in Percentage of Time That Subjects With Autism Spend in REM Sleep. — 9.2 percentage of REM sleep
Metabolic Disease · Seizures
Primary: Change From Baseline on the Adaptive Behavior Assessment System (ABAS) Test at the End of the Study Drug and Placebo Treatment Periods — 5.2; 4.5 scores on a scale