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.
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
N/A N=165 Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy
Congenital Heart Disease
Primary: To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665 — 10 participants
Phase 4 N=28 Implementation of PPI Medication PGX Testing
Gastroesophageal Reflux
Primary: Count of Patients Agreeing to Volunteer for the Study — 28 Participants
Early Phase 1 N=162 Pediatric Reporting of Adult-Onset Genomic Results
Hereditary Breast and Ovarian Cancer Syndrome · Lynch Syndrome · Familial Hypercholesterolemia
Primary: The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale — 10.32; 8.26; 8.96 units on scale
Phase 3 N=49 Pharmacogenomics in Autism Treatment
Autism
Primary: Percent Change of ABC - Irritability Subscale Score — -44.5 percent change in scores
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=16 A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Phase 2 N=30 Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
Epilepsy
Primary: Summary of 28-day Seizure Frequency for Sum of Individual Seizures and Clusters for 52-week OLE Period (Mean Percent Change & Standard Deviation) — -31.23; NA; 122.10…
Phase 3 N=12 Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
Bardet-Biedl Syndrome · POMC Deficiency Obesity · PCSK1 Deficiency Obesity
Primary: Percentage of Participants With Greater Than or Equal to (≥) 0.2 Reduction of BMI Z-Score From Baseline to Week 52 — 85.7; 80.0 percentage of participants
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=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=39 ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
N/A N=529 Clinical Utility of Pediatric Whole Exome Sequencing
Encephalopathy · Birth Defect · Intellectual Disability
Primary: Number of Pediatric Patients With a Positive Exome Sequencing Result — 142 Participants
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
N/A N=1,097 Prenatal Genetic Diagnosis by Genomic Sequencing
Fetal Structural Anomalies
Primary: Number of Participants Who Had Reportable Variants — 114; 22 Participants
N/A N=22,845 Observational Study of Somatropin Treatment in Children
Growth Hormone (GH) Deficiency · Short Stature Homeobox Containing Gene (SHOX) Deficiency · SHOX Deficiency-related Disorder
Primary: Type 2 Diabetes Mellitus in GH-treated Participants — 1; 9; 8 Incident Cases
Phase 2 N=23 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
N/A N=53 Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
N/A N=29 Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Rothmund-Thomson Syndrome
Primary: Bone Density (Low Areal Bone Mineral Density (aBMD)) — -1.3; -0.9; -2.4; -1.2 z-score
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…
Phase 3 N=12 Betaine and Peroxisome Biogenesis Disorders
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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
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=28 Increasing Documentation and Disclosure of Sickle Cell Trait Status: An Implementation Science Approach
Sickle Cell Trait
Primary: Acceptability — 11; 8; 11; 8 Participants
N/A N=257 Down Syndrome Metabolic Health Study
Down Syndrome · Trisomy 21
Primary: Non-HDL Cholesterol — 128; 107 mg/dl
N/A N=40 Umbilical Cord Blood Transplant for Congenital Pediatric Disorders
Congenital Pediatric Disorders
Primary: Overall Survival at 100 Days After Umbilical Cord Blood Transplant in Pediatric Patients. — 0.947 probability of overall survival
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
N/A N=148 The Pediatric Intermed: A New Clinical Decision Making Tool
Inflammatory Bowel Disease
Primary: Pediatric INTERMED- Complexity Index — 24; 9.0; 4.0; 4.0 scores on a scale
Phase 3 N=56 Effect of Liraglutide for Weight Management in Paediatric Subjects With Prader-Willi Syndrome
Metabolism and Nutrition Disorder · Obesity
Primary: Change in Body Mass Index (BMI) Standard Deviation Score (SDS) From Baseline to 16 Weeks — -0.18; -0.18; -0.50; -0.48 SDS score