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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=3 NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome
Menkes Disease · Occipital Horn Syndrome
Primary: Treatment Related Adverse Events as Assessed by CTCAE v4.0 — 10; 6 adverse events
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 1 N=32 A Dose-escalating Clinical Trial With KH176
MELAS · LHON · Leigh Syndrome
Primary: SAD: Change From Baseline in ECG Results by Timepoint: Corrected QT Interval According to Fridericia's Formula (QTcF) — 386.2; 395.0; 385.8; 399.3 msec
Phase 2 N=9 Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840
Wilson Disease
Primary: Mean Daily Copper Balance: Day 1 Through Day 8 — 0.8025; 0.3062 milligrams/day
Phase 2 N=31 Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840
Wilson Disease
Primary: Change From Baseline in Liver Cu Concentration at Week 48 (Treatment Period) — 92.8 μg/g — p=0.1002
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=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=4 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Phase 3 N=5 Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A
Molybdenum Cofactor Deficiency, Type A
Primary: Overall Survival — 3 Participants
N/A N=64 The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment
Wilson Disease
Primary: Percentage Of Participants Who Achieved Or Maintained Normalized Concentrations Of Non-ceruloplasmin-bound Copper (NCC) Or Reached A Reduction Of ≥ 25% In NCC During 6…
Phase 2 N=34 Pharmacokinetics (PK)/Safety Study of Atorvastatin in Children With Kawasaki Disease and Coronary Artery Abnormalities
Kawasaki Disease
Primary: Number of Participants With SAE — 4 Participants
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=29 Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
Wilson Disease
Primary: Percentage Of Participants With Normalized Concentrations Of NCC — 85.7 percentage of participants
Phase 2 N=5 Magnesium Supplementation in People With XMEN Syndrome
XMEN
Primary: Participants With a ≥0.5 Log Reduction in the Number of EBV-infected B Cells After Magnesium Supplementation as Compared to Placebo - Phase 1 — 0; 0 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=21 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
Williams Beuren Syndrome
Primary: Variation of Carotid Intima-media Thickness (IMT) Assessed by Vascular Echography — 0.028; 0.012 mm
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=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=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
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
Phase 2 N=11 Mitochondria and Chronic Kidney Disease
Hemodialysis-Induced Symptom · Mitochondrial Diseases
Primary: Phosphocreatine (PCR) Recovery Time After Knee Extension Assessed by 31 Phosphorus Magnetic Resonance Spectroscopy (31P-MRS) — 60.59; 62.66 seconds
Phase 2 N=8 Safety & Efficacy Study of ORGN001 (Formerly ALXN1101) in Pediatric Patients With MoCD Type A Currently Treated With rcPMP
Molybdenum Cofactor Deficiency, Type A
Primary: Safety of ORGN001 (Formerly ALXN1101) — 1; 5; 6; 2 events
Phase 3 N=77 Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease
Wilson Disease
Primary: Serum NCC Concentration — 46.5; 58.7 µg/L
Phase 2 N=6 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
N/A N=28 Chronic Liver Disease in Urea Cycle Disorders
Urea Cycle Disorder
Primary: Liver Stiffness as Measured by Shear Wave Elastography — 13; 14 Participants
Phase 2 N=46 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
Phase 3 N=105 KIDCARE (Kawasaki Disease Comparative Effectiveness Trial)
Mucocutaneous Lymph Node Syndrome
Primary: Number of Participants With Cessation of Fever Within 24h of Initiation of Study Treatment With no Fever Recurrence Within Next 7 Days. — 25; 40 Participants
Phase 2 N=6 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
Phase 2 N=14 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…