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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=101 Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
CDKL5 Deficiency Disorder
Primary: Summary of 28-day Seizure Frequency for Major Motor Seizure Types — 49.17; 54.00; 55.50; 45.03 Seizures per day
Phase 2 N=15 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
Epilepsy
Primary: Percent Change From Baseline in 28-Day Convulsive Seizure Frequency During Ataluren Treatment Period — 723.17 percent change
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
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=453 Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study
Childhood Absence Epilepsy · Petit Mal Epilepsy · Epilepsy
Primary: Number of Participants With Freedom From Treatment Failure at 16-20 Weeks of Double Blind Therapy — 81; 43; 85 Participants — p=<0.001
Phase 2 N=45 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
GLUT1DS1 · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive
Primary: Neuropsychological Score of Sustained Attention — 11 Participants
Phase 2 N=21 Study of Adjunctive Ganaxolone Treatment in Female Children With Protocadherin 19 (PCDH19)-Related Epilepsy (Violet Study)
PCDH19-Related Epilepsy
Primary: Summary of 28-day Seizure Frequency Through 17 Week Post-Baseline Phase (Median Percent Change) — -23.97; -61.52 Median % Change in Number of Seizures
Phase 2 N=61 Cannabidiol Oral Solution in Pediatric Participants With Treatment-resistant Seizure Disorders
Seizures
Primary: Maximum Plasma Concentration (Cmax) for Cannabidiol and Metabolite 7-hydroxy (7-OH) Cannabidiol — 59.03; 110.5; 256.9; 28.71 nanograms/milliliter (ng/mL)
Phase 3 N=63 A Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents
Cerebral Palsy, Dyskinetic
Primary: Change From Baseline in the Movement Disorder-Childhood Rating Scale (MD-CRS) Part II Total Score (Movement Disorder Severity, Centrally Read) at Week 15 — -0.4; -1.5…
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Phase 2 N=52 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
Rett Syndrome
Primary: Change in Mullen; Visual Reception Sub-scale Scores, Pre- and Post-Intervention — 5.45; 6.61; 6.64; 6.57 score on a scale — p=.211
N/A N=65 CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0 — 1.15; 1.38; 1.14; 0.86 Events per person — p=0.50
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
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
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=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Phase 3 N=52 Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder
Seizures
Primary: Percentage of Participants With Adverse Events — 88.9; 92.3; 88.2; 90.4 Percentage of participants
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 1 N=5 Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
Dilated Cardiomyopathy
Primary: Number of Participants With Major Cardiac Adverse Events Related to Transcoronary Infusion of CDCs. — 1 Participants
Phase 2 N=2 Verapamil as Therapy for Children and Young Adults With Dravet Syndrome
Dravet Syndrome
Primary: Change in Number of General Tonic-clonic Seizures From Week 8 (Baseline) Visit to Week 12 Visit — 39; 14 General tonic-clonic seizures
Phase 3 N=89 Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
Phase 2 N=10 Low-Dose Ketamine in Children With ADNP Syndrome
ADNP Syndrome
Primary: Number of Participants With an Adverse Event — 9 Participants
Phase 3 N=68 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Phase 2 N=174 Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Duchenne Muscular Dystrophy · Becker Muscular Dystrophy
Primary: Change From Baseline in 6MWD at Week 48 — -41.81; -12.86; -42.56 meters — p=0.4756
Phase 2 N=14 Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs) — 14; 5; 8; 1 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=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=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
Early Phase 1 N=10 Study of Modified Atkins Diet in Kabuki Syndrome
Kabuki Syndrome
Primary: Benton Judgement of Line Orientation — 8.6; 11.6 score on a scale