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
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Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=6 MTT for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders
Pitt Hopkins Syndrome
Primary: Daily Stool Record (DSR( — -2.3; 0 days
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
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=8 A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia
BH4 Deficiency · Hyperphenylalaninemia
Primary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) — 2; 2; 4; 3 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
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=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
Phase 2 N=109 Effect of PBT2 in Patients With Early to Mid Stage Huntington Disease
Huntington Disease
Primary: Safety and Tolerability of PBT2 in Patients With HD — 32; 30; 28 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
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=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
Phase 3 N=69 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)
Hypophosphatasia
Primary: Effect of Asfotase Alfa Treatment on Skeletal Manifestations of Hypophosphatasia (HPP) — 2.00 scores on a scale
Phase 2 N=35 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Albinism · Inborn Errors of Metabolism · Oculocutaneous Albinism
Primary: Change in Forced Vital Capacity (36 Months) — -23.52; -20.93 % of predicted volume
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
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 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=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=12 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
Tetrahydrobiopterin Deficiencies · Hyperphenylalaninemia, Non-Phenylketonuric
Primary: Blood Phenylalanine(Phe) Levels Measured at Specified Timepoints — 132.9; 72.2; 315.0; 104.1 μmol/L
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
N/A N=48 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
Hypophosphatasia (HPP)
Primary: Survival — 270.5 days
Phase 2 N=12 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Phase 2 N=19 Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP)
Hypophosphatasia
Primary: Change From Baseline to Week 24 for Plasma Pyridoxal-5' Phosphate (PLP) — -254.96; -564.27; 3.13; -397.72 ng/mL — p=0.0285
Phase 3 N=58 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Hunter Syndrome
Primary: Change From Baseline in the Differential Ability Scales, Second Edition (DAS-II) General Conceptual Ability (GCA) Standard Score at Week 52 — -7.4; -4.4 Score on a scale…
Phase 2 N=6 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy)
Pseudohypoparathyroidism Type 1a · Albright Hereditary Osteodystrophy
Primary: Change in Urine cAMP — 3048 fm/uL
Phase 2 N=60 Copper Histidine Therapy for Menkes Diseases
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Phase 1 N=53 Trial of Panobinostat in Children With Diffuse Intrinsic Pontine Glioma
Glioma
Primary: Number of Patients Who Experienced Dose Limiting Toxicities (DLTs) — 0; 2; 0; 1 Participants
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=11 Familial Hyperlipidemia Family Registry
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 participants
N/A N=10 Tetrahydrobiopterin Treatment in Children With Idiopathic Cognitive Developmental Disorders
Autism Spectrum Disorder
Primary: Preschool Language Scales — 7.6 Raw score units / 16 weeks