Phase 2 N=37 NB-001 in Children and Adolescents With 22q11 Deletion Syndrome
22q11 Deletion Syndrome
Primary: Safety and Tolerability of NB-001 — 18; 24; 14; 20 Participants
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=110 Mindfulness Program for Adolescents With 22q11DS
22Q11 Deletion Syndrome
Primary: Change From Baseline in Adolescents' Coping Skills — 3.10; 2.68; 3.18; 2.79 units on a scale — p=0.04
Phase 2 N=19 Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
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
Phase 2 N=20 Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
22Q11.2 Deletion Syndrome
Primary: Overall Number of Participants With Treatment-Emergent Adverse Events (TEAEs) and Treatment-Emergent Serious Adverse Events (SAEs) — 12; 3 Participants
Phase 2 N=6 Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Phelan McDermid Syndrome
Primary: ABC - Social Withdrawal Subscale — 10.31; 4.6; 14.8; 6.2 score on a scale
Phase 2 N=6 AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
Phelan-McDermid Syndrome · Epilepsy
Primary: Number of Adverse Events — 19 events
Phase 2 N=13 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
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
N/A N=23 Obstructive Sleep Apnea and Neurocognitive and Cardiovascular Function in Children With Down Syndrome
Down Syndrome · Obstructive Sleep Apnea Syndrome
Primary: Change in Epworth Sleepiness Scale From Baseline to End of Study — -1; -0.5; 1 units on a scale
Phase 2 N=26 Thymus Transplantation in DiGeorge Syndrome #668
DiGeorge Syndrome · Complete Typical DiGeorge Anomaly
Primary: Survival at 1 Year Post-Cultured Thymus Tissue Implantation (CTTI) — 72 % of participants who survive to 1 year
Phase 2 N=7 Fenfluramine in CDKL5 Deficiency Disorder (CDD)
CDD
Primary: Change From Baseline in Median Monthly Convulsive Seizure Frequency — 88.429 Number of monthly seizures
N/A N=48 Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
Klinefelter Syndrome · XXY Syndrome
Primary: Change From Baseline on the Delis-Kaplan Executive Function System — -0.72; 1.29; 1.28; 0.65 Scaled scores
Phase 2 N=7 Thymus Transplantation Dose in DiGeorge #932
DiGeorge Anomaly · DiGeorge Syndrome · Complete DiGeorge Anomaly
Primary: Survival at 1 Year Post-CTTI — 83 % of participants who survive to 1 year
Phase 2 N=42 Randomized Controlled Study of Donepezil in Fragile X Syndrome
Fragile X Syndrome
Primary: Contingency Naming Test (CNT) Performance Score — 37.05; 40.50; 66.94; 61.56 correct responses per minute
Phase 2 N=139 Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
Fragile X Syndrome
Primary: Change From Baseline in Behavioral Symptoms of Fragile X Syndrome Using the Aberrant Behavior Checklist-Community Edition (ABC-CFX) Total Score in Stratum I Patients…
Phase 2 N=12 Smith-Lemli-Opitz Syndrome and Cholic Acid
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
N/A N=18 Predictors of Speech Ability in Down Syndrome
Speech Intelligibility Intervention in Down Syndrome
Primary: Speech Intelligibility — 3.59 score on a scale
Phase 2 N=46 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
PTEN Gene Mutation · PTEN Hamartoma Tumor Syndrome
Primary: Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout — 3; 2; 5; 2 Participants
Phase 2 N=23 An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
Phelan-McDermid Syndrome
Primary: Safety and Tolerability — 17; 17; 1; 3 Participants
Phase 2 N=20 A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY)
15q Duplication Syndrome · CDKL5 Deficiency Disease
Primary: Percent Change From Baseline in Motor Seizure Frequency Per 28 Days During the Maintenance Period — 11.7; -23.6 percent change
N/A N=39 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale