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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=126 A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Hyperphagia Questionnaire (HQ-CT) Change From Baseline at Visit 7 (Week 13) — -5.94; -4.27 score on a scale — p=0.1983
Phase 2 N=19 A Study of GLWL-01 in Patients With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Post-treatment Total Score on the Hyperphagia Questionnaire for Clinical Trials (HQ-CT) — 15.9; 14.7 score 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
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 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
Phase 3 N=11 Growth Hormone Use in Adults With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Body Composition — 51.2; 48.5; 52.1 percentage of body fat — p=<0.05
Phase 2 N=32 Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome
Prader-Willi Syndrome · Hyperphagia
Primary: Change in Efficacy of Peptide Intranasal Oxytocin (IN-OXT) — -6.08; -6.64 score on a scale
N/A N=70 Intrauterine Environment in Polycystic Ovary Syndrome (PCOS) Probands
Polycystic Ovary Syndrome
Primary: Estradiol Level in Female Offspring — 18606; 6467 pg/ml — p=0.049
Phase 2 N=18 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants
Prader Willi Syndrome
Primary: Occurence of Adverse Event — 10; 9; 6 number of adverse events
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=15 Intranasal Oxytocin for Infants With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Suck and Swallow Competency in Infants/Children With PWS Who Are in Nutritional Phase 1a — 8; 4; 1; 1 Participants — p=0.930
Phase 4 N=28 Implementation of PPI Medication PGX Testing
Gastroesophageal Reflux
Primary: Count of Patients Agreeing to Volunteer for the Study — 28 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
N/A N=383 Clinical Implementation of Carrier Status Using Next Generation Sequencing
Genetic Disorders
Primary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants
Phase 2 N=38 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome
Hyperphagia in Prader-Willi Syndrome
Primary: Change From Baseline in Hyperphagia in Prader-Willi Syndrome (PWS) Questionnaires- Responsiveness (HPWSQ-R) Total Score at End-of-treatment (Day 15) — -15.6; -8.9 score…
Phase 2 N=40 Phase 2 Trial to Evaluate Safety and Efficacy of Setmelanotide (RM-493) in Obese Participants With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Number of Participants Who Experienced a Treatment-Emergent Adverse Event (TEAE) - Period 2 — 4; 11; 6; 11 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=12 Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome
Prader-Willi Syndrome · Obesity
Primary: Microbiome Analysis: Alpha Diversity — 4.89 Shannon index
Phase 4 N=458 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study
Idiopathic Growth Hormone Deficiency · Turner Syndrome
Primary: Change From Baseline in Height at Year 1 — 103.6; 103.5; 9.8; 8.6 centimeter
Phase 2 N=7 IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
Short Stature
Primary: Height Velocity — 3.0; 4.3; 6.2; 4.8 cm/y
Phase 3 N=130 Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
Prader-Willi Syndrome
Primary: Hyperphagia Behavior — -3.439; -5.372; -2.237 score on a scale — p=0.3493
N/A N=316 Clinical Utility of Prenatal Whole Exome Sequencing
Structural Anomalies · Cardiac Anomalies · Central Nervous System Anomalies
Primary: Diagnostic Yield of Prenatal Exome in Patients With Fetal Structural Anomalies — 60 Participants
Phase 2 N=23 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
Prader-Willi Syndrome · Hyperphagia
Primary: Hyperphagia Questionnaire (HQ)- Total Score — 27.91; 30.58; 27.4; 23.33 score on a scale — p=0.059
Phase 2 N=65 A Phase 2 Study to Evaluate the Safety and Efficacy of Pitolisant in Patients With Prader-Willi Syndrome, Followed by an Open Label Extension
Prader-Willi Syndrome
Primary: Excessive Daytime Sleepiness — -3.5; -5.0; -3.9 score on a scale
N/A N=236 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophy · White Matter Disease · 4H Syndrome
Primary: Changes in Diagnosis Status (Resulting From WGS) — 45 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
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=538 Genetic Research in Schizophrenia Using DNA Markers and Clinical Phenotypes
Schizophrenia
Primary: Genetic Linkage — 5.2 log (odds ratio) — p=<0.001