Phase 3 N=4 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria
Hereditary Orotic Aciduria
Primary: Patients With Stable Predetermined Principal Hematologic Parameters — 4 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=12 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Argininosuccinic Aciduria · Amino Acid Metabolism, Inborn Errors · Urea Cycle Disorders
Primary: Measures of Liver Function: AST and ALT — 36.2; 52; 31.7; 57.86 IU/L
N/A N=187 PCORI Urea Cycle Disorder Study
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
N/A N=46 Neurologic Injuries in Adults With Urea Cycle Disorders
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
Phase 2 N=22 Hydroxyproline Influence on Oxalate Metabolism
Hyperoxaluria
Primary: Mean Percent Conversion of Hydroxyproline (Hyp) to Urinary Oxalate (UOx) — 12.8; 32.9; 14.8 percent converted
N/A N=49 Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001
Phase 3 N=46 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders
Urea Cycle Disorders
Primary: The Primary Endpoint Was the 24-hour Area Under the Curve for Blood Ammonia (NH324-hour AUC) on Days 14 and 28. — 976.6; 865.35 μmol∙h/L
Phase 2 N=11 Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Urea Cycle Disorders
Primary: Rate of Adverse Events During the Switchover Part of the Study Rate of Adverse Events (Number of Participants Showing Adverse Events) — 4; 2 participants
Phase 3 N=23 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
Urea Cycle Disorders
Primary: Adverse Events — 0; 6 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 4 N=26 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
Urea Cycle Disorder
Primary: Percentage of Participants With Successful Transition to RAVICTI With Controlled Ammonia (i.e. No Clinical Symptoms and Ammonia < 100 μmol/L): Cohort of 2 Months to <2…
Phase 2 N=14 Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders
Urea Cycle Disorders
Primary: Venous Ammonia Levels at the Peak and Mean TNUAC Time-normalized Area Under the Curve) — 79.1; 56.3; 38.4; 26.5 μmol/L
Phase 3 N=60 Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
Urea Cycle Disorders
Primary: Rate of Adverse Events (Number of Participants Who Experienced Any AE Considered Related to Study Drug) — 33 participants
Phase 2 N=11 Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
Ornithine Transcarbamylase (OTC) Deficiency
Primary: Number of Participants With Adverse Events (AEs), Treatment-Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), Deaths, and TEAEs Leading to Discontinuation…
Phase 2 N=40 Long-Term Study of Nitisinone to Treat Alkaptonuria
Alkaptonuria
Primary: Change in Total ROM Worse Hip — -9.1; 1.6 degrees
Phase 3 N=8 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Phase 4 N=88 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
Urea Cycle Disorders
Primary: Number of Participants With at Least One Adverse Event — 34; 40 Participants
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
Phase 3 N=20 Phenylbutyrate Therapy for Maple Syrup Urine Disease
Maple Syrup Urine Disease
Primary: 0-24 Hour AUC Leucine (Samples Collected at 0, 2, 4, 8, 12, 16, 20, and 24 Hours) — 6217; 4616 micromoles*hour/L
Phase 2 N=47 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Propionic Acidemia, Type I and/or Type II · Methylmalonic Acidemia · Carbamoyl-Phosphate Synthase I Deficiency Disease
Primary: Time to the Primary Outcome (Earlier of Ammonia <50 µmol/L or Hospital Discharge) — 1.37; 0.79 Hazard Ratio
Phase 1 N=4 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
Phase 4 N=16 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
Urea Cycle Disorder
Primary: Rate of Treatment Success (Percentage of Participants Defined as Treatment Success at Week 4) During the Initial Treatment Period — 81.8; 80.0 percentage of participants…
Phase 2 N=37 Pegylated Recombinant Mammalian Uricase (PEG-uricase) as Treatment for Refractory Gout
Gout
Primary: Reduction in Plasma Uric Acid to Less Than 6 mg/dL. — 17 Participants
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 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
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 4 N=9 Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion
Adenine Phosphoribosyltransferase Deficiency
Primary: Urinary 2,8-dihydroxyadenine Excretion — 116; 45; 13 mg/24-h — p=<.05
Phase 2 N=13 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria
Hyperoxaluria
Primary: Urinary Oxalate Excretion — 1.43; 1.04 umol/mg — p=0.007
Phase 2 N=47 Safety Study of Ornithine Phenylacetate to Treat Patients With Acute Liver Failure/Severe Acute Liver Injury
Acute Liver Failure · Acute Liver Injury
Primary: Number of Participants That do Not Tolerate the Administered Dose and Had Grade 3 or 4 Treatment Emergent Adverse Events as a Measure of Safety and Tolerability — 0; 0…
N/A N=22 A Pilot Study of Oxalate Absorption in Secondary Hyperoxaluria
Secondary Hyperoxaluria · Nephrolithiasis · Hyperoxaluria
Primary: Percent of Oxalate Absorption Normalized by Baseline Urinary Oxalate Excretion Over a 24 Hour Test Period — 2.84 percentage of oxalate absorption