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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=14 Rilonacept for Treatment of Familial Mediterranean Fever (FMF)
Familial Mediterranean Fever
Primary: To Assess the Efficacy of Rilonacept in Decreasing the Number of Acute FMF Attacks. — 0.77; 2.00 number of attacks per month — p=0.027
Phase 3 N=35 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome
Muckle Wells Syndrome
Primary: Percent of Participants With Disease Flare in Part II (After 24 Weeks of the Double-blind Part) — 0; 81.3 percent of participants
Phase 2 N=52 A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency
Pyruvate Kinase Deficiency
Primary: Percentage of Participants Experiencing at Least One Adverse Event (AEs) in the Core Period — 96.3; 100.0 percentage of participants
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 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
Phase 3 N=177 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
MPS IV A
Primary: Change From Baseline in Endurance as Measured by the 6-minute Walk Test — 211.9; 205.7; 203.9; 225.4 meters — p=0.0174
Phase 3 N=15 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
NLRC4-MAS · XIAP Deficiency
Primary: Prevention of Flares — 2.71; NA Weeks
Phase 2 N=9 Canakinumab in Patients With Active Hyper-IgD Syndrome
Mevalonate Kinase Deficiency
Primary: Number of Flares Per Participant During Historical Period and Treatment Period — 5; 0 Number of flares
Phase 2 N=35 REduCing Immunogenicity to PegloticasE (RECIPE) Study
Gout Chronic
Primary: Proportion of Participants Achieving and Maintaining an sUA ≤ to 6 Milligram Per Deciliter (mg/dL) Through 12 Weeks — 19; 4; 3; 6 Participants — p=<0.01
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=15 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)
Mucopolysaccharidosis IVA · Morquio A Syndrome · MPS IVA
Primary: To Evaluate Safety and Tolerability of Infusions of BMN 110 at a Dose of 2.0 mg/kg/Week Over a 52-week Period in MPS IVA Subjects Less Than 5 Years of Age at Time of…
Early Phase 1 N=5 Pilot Study of Atorvastatin and Anakinra in Children With Coronary Artery Abnormalities Secondary to Kawasaki Disease
Kawasaki Disease
Primary: Number of Participants With Treatment-related Adverse Events — 0 Participants
Phase 4 N=11 Is Treatment of Vitamin D Deficiency Associated With Resolution of Statin-Induced Muscular Symptoms
Myopathic Symptoms
Primary: Number of Participants With Reduction in Myopathic Pain — 4; 4 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=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 4 N=13 Pegloticase and Methotrexate Co-administered in Participants With Uncontrolled Gout Who Previously Failed Pegloticase Monotherapy
Uncontrolled Gout
Primary: Percentage of Serum Uric Acid (sUA) Responders (sUA < 6 mg/dL) During Month 6 — 9.1 percentage of participants
Phase 4 N=152 Study of KRYSTEXXA® (Pegloticase) Plus Methotrexate in Participants With Uncontrolled Gout
Gout
Primary: Percentage of Serum Uric Acid (sUA) Responders (sUA < 6 mg/dL) During Month 6 — 71.0; 38.5 percentage of participants — p=< 0.0001
Phase 4 N=15 Study of Pegloticase (KRYSTEXXA®) Plus Methotrexate in Patients With Uncontrolled Gout
Gout
Primary: Percentage of Serum Uric Acid (sUA < 6 mg/dL) Responders During Month 6 — 78.6 percentage of participants
Phase 2 N=23 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Phase 3 N=90 Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007
Pyruvate Kinase Deficiency
Primary: All Cohorts: Number of Participants With at Least One Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, Related TEAEs and TEAEs With Severity Greater Than or…
Phase 2 N=12 Study of Kuvan Treatment in Adults With GTPCH Deficiency
GTP Cyclohydrolase Deficiency
Primary: Change in BH4 Levels in Cerebral Spinal Fluid — 6; 10.7; 5.3; 13.2 nmol/L
Phase 2 N=12 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
GNE Myopathy
Primary: Mean Area Under the Curve (AUClast) of Plasma ManNAc (Baseline-adjusted) — 7461; 9432 hr*ng/mL
Phase 3 N=2,414 MK-0524B Lipid Study (MK-0524B-063)
Primary Hypercholesterolemia · Mixed Dyslipidemia
Primary: Percentage Change From Baseline in Low-density Lipoprotein Cholesterol (LDL-C) — -44.6; -46.9; -48.9; -50.4 Percentage Change
Phase 1 N=24 Effect of Hepatic Impairment on M2951 (BTK Inhibitor) PK
Hepatic Impairment
Primary: Area Under the Plasma Concentration Time Curve From Time Zero to Infinity (AUC0-inf) of M2951 — 186; 232; 362 hour*nanogram per milliliter (h*ng/mL)
Phase 2 N=11 Interleukin-1 Trap to Treat Autoinflammatory Diseases
Inflammation · Familial Mediterranean Fever · Still's Disease, Adult-Onset
Primary: Mean Change in Daily Scores — -3.09 units on a scale
Phase 3 N=94 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Hunter Syndrome · Mucopolysaccharidosis II (MPS II)
Primary: Change From Baseline in Mean Percent Predicted Forced Vital Capacity (FVC) at Week 105 — -0.056 percent predicted FVC
Phase 2 N=23 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
Phase 4 N=74 An Assessment of Chronic Synovial-Based Inflammation and Its Role With Serum Urate Levels.
Gout
Primary: Number and Percentage of Participants With Evidence of Chronic Ongoing Synovial-Based Inflammatory Disease at Baseline. — 63 Participants — p=0.34
Phase 2 N=20 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA
MPS IV A
Primary: Subject Incidence of Treatment Emergent AEs — 18; 18; 17; 17 participants