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
Clinical Trial Search
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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 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
Phase 2 N=17 Tetrahydrobiopterin in Patients With Chronic Kidney Disease (CKD) and Albuminuria
Kidney Disease · Albuminuria
Primary: The Primary Outcome Measure is Level of Albuminuria. — 927.9; 897.1 ratio
Phase 3 N=56 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Phenylketonuria
Primary: Dietary Phenylalanine (Phe) Tolerance at Week 26 — 80.6; 50.1 mg/kg/day
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 4 N=10 Effects of Kuvan on Melatonin Secretion
Phenylketonuria (PKU)
Primary: Serum Melatonin at the End of 4 Weeks — 266.9; 205.7; 220.4; 301.2 pg/ml
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 3 N=90 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
Phenylketonuria
Primary: Percentage of Participants With Response to Kuvan® (Sapropterin Dihydrochloride) Treatment — 33.3 percentage of participants
Phase 4 N=45 Effect of Urinary Alkalinization on Urine Uric Acid Precipitation and Crystallization in Adults With Type 1 Diabetes
Type 1 Diabetes · Diabetic Nephropathy · Diabetic Kidney Disease
Primary: Change in Urine Uric Acid Concentration (Increased Solubility) by Assay — 23.81; 22.30 mg/dl
Phase 4 N=7 The Effectiveness of Kuvan in Amish PKU Patients
Phenylketonuria
Primary: Number of Participants With 20% Decrease in Phenylalanine Levels From Baseline (Positive Response) — 0; 0; 0 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=5 Nitisinone for Type 1B Oculocutaneous Albinism
Albinism · Vision Loss
Primary: Absolute Mean Change in Iris Pigmentation on an 8-point Iris Transillumination Scale at 12 Months as Compared to Baseline. Participants Left and Right Eyes Will be…
N/A N=6 Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Phenylketonuria
Primary: Plasma Phenylalanine Level (mg/dl) — 18.0; 17.2 mg/dl — p=>0.05
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…
Phase 2 N=21 Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Phenylketonuria
Primary: Percent Change in Blood Phenylalanine — -13.71; -8.13; 48.75 Percent change in blood phenylalanine
N/A N=58 Nutritional and Neurotransmitter Changes in PKU Subjects on BH4
Phenylketonuria
Primary: Change From Baseline in BMI at 12 Months — -0.65574 kg/m^2 — p=0.692782
Phase 2 N=16 Evaluating ALLN-177 for Reducing Urinary Oxalate Excretion in Calcium Oxalate Kidney Stone Formers With Hyperoxaluria
Hyperoxaluria · Nephrolithiasis
Primary: Change From Baseline Period to Treatment Period 24-hour Urinary Oxalate Excretion — -13.92 mg/day
N/A N=47 Determinants of Alpha-aminoadipic Acid (2-AAA) and Relationship to Diabetes: Study 2
Healthy
Primary: Change in Plasma 2-AAA Concentration From Baseline — -9.35; 7.02 ng/ml
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
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
N/A N=80 Uric Acid and the Endothelium in CKD
Kidney Disease
Primary: Change in Endothelial Dependent Dilation From Baseline to Week 12 — 0.2; 0.9 % change — p=0.47
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=203 Microalbuminuria in Children With and Without Diabetes
Diabetes Mellitus
Primary: Number of Subjects With Normal Urinary Protein Excretion in Healthy and Diabetic Children, Assessed Over 1 Day. — 91; 112 participants — p=<0.05
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
Phase 3 N=149 Alkali Therapy in Chronic Kidney Disease
Chronic Kidney Disease · Metabolic Acidosis
Primary: Sit to Stand to Sit Speed: Time Taken to Sit to Stand to Sit 10 Times — 23.8; 22.9 seconds
Phase 3 N=90 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
Phenylketonurias
Primary: Amount of Dietary Supplemented Phenylalanine (Phe)Tolerated in Children With Phenylketonuria — 20.9; 2.9 mg/kg/day — p=<0.001
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=111 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
Phenylketonuria
Primary: Tabulation of the Incidence and Frequency of All AEs and SAEs That Occur Throughout the Study. — 83.8; 33.3; 6.3; 0.9 percentage of subjects reporting events
Phase 4 N=59 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
Phenylketonuria
Primary: Percentage of Participants With at Least 30 Percent Reduction From Baseline in Blood Phenylalanine (Phe) Level — 75 Percentage of participants