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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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=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=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=18 Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome
Primary: Change in Aberrant Behavior Checklist — -7.44; -2.42; -5; -1.71 score on a scale
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
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
Phase 2 N=18 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores 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
N/A N=17 Cytokines in Papillon-Lefèvre Syndrome
Papillon-Lefevre Disease
Primary: Serum Concentrations of Interleukin (IL)-1 Beta — 1100.00; 896.21; 65559; 45734 pg/ml
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
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=25 Minocycline in the Treatment of Angelman Syndrome
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…
Phase 2 N=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 participants
Phase 2 N=3 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Netherton Syndrome
Primary: Blood Pimecrolimus Levels — 0; 0; 0.312; 1.260 ng/mL
Phase 2 N=28 An Open-Label Study of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001)
Pitt Hopkins Syndrome
Primary: Safety and Tolerability — 15; 0; 4; 12 Participants
Phase 3 N=67 A Trial of Levodopa in Angelman Syndrome
Angelman Syndrome
Primary: Bayley Cognitive Age Equivalent at 1 Year — 19; 19 months — p=0.75
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=34 Characterization and Sequential Pharmacotherapy of Severe Mood Dysregulation
Severe Mood Dysregulation
Primary: Clinical Global Impression-Severity-Severe Mood Dysregulation — 4.91; 3.62; 4.30; 4.42 units on a scale — p=.58
N/A N=90 Dietary Supplements for the Treatment of Angelman Syndrome
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…
N/A N=10 Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Change in Weight — -.5 kg — p=.07
Phase 2 N=15 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome
Nervous System Disease
Primary: Standard UptakeValue (SUV) Area Under the Curve (AUC) (30-120min) - Bladder — 575.1; 650.8 SUV x min
N/A N=19 Manipulating Linguistic Complexity to Improve Child Language Treatment Outcomes
Language Development Disorders · Speech Sound Disorder
Primary: Treatment Probe Accuracy Change — 26; 23 percent accuracy of target consonants
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=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Phase 2 N=21 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
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
N/A N=30 Self-Management for Youth and Families Living With SCD - SMYLS
Sickle Cell Disease
Primary: Rates of Recruitment — 14 weeks
N/A N=12 Treatment Trial of Subclinical Hypothyroidism in Down Syndrome
Down Syndrome · Subclinical Hypothyroidism
Primary: Change in Lipid Panel From Baseline at 6, 12 and 18 Months. — 160; 170; 163; 172 mg/dL
Phase 3 N=20 Treatment of Sunflower Syndrome With ZX008 (Fenfluramine Hydrochloride) in Children and Young Adults (Ages 4-25).
Photosensitive Epilepsy
Primary: % Change in Frequency of Handwaving Episodes — -66.2 % change in hand waving episodes — p=<0.001
Phase 3 N=67 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders
Autistic Disorder · Asperger's Disorder · Pervasive Developmental Disorder NOS
Primary: Social Responsiveness Scale (SRS) Change — -13.39; -17.00 units on a scale — p=0.45