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=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=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=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=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=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
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
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=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
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=19 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1
Neurofibromatosis Type 1 and Growing or Symptomatic, Inoperable PN
Primary: Percent of Participants With a 20% or More Change in Target Tumor Volume — 0; 8; 11; 0 Participants
N/A N=10 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
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=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=357 Hemangioma Associated With High Rates of Morbidity
Hemangioma
Primary: MRI/MRA of Head/Neck/Chest. — 357 participants
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 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=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 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 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 1 N=6 AMD 3100 for Treatment of Myelokathexis
Neutropenia
Primary: Blood Neutrophil Counts. — 4.48 10^9 per Liter — p=<0.05
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=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
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
Phase 2 N=36 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
Neurofibromatosis 1 · Neurofibroma, Plexiform
Primary: Median Time to Disease Progression — 13.2 Months
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 3 N=16 Study in Pediatrics With HypEREosinophilic Syndrome (SPHERE)
Hypereosinophilic Syndrome
Primary: Number of Participants Who Experienced HES Flares Over the 52-Week Study Treatment Period — 10; 4; 1; 1 Participants
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