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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=12 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID
Immunologic Deficiency Syndromes
Primary: Survival — 12 Participants
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 2 N=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 participants
N/A N=9 Purine Analog-Based Conditioning in Patients With Severe Aplastic Anemia
Aplastic Anemia
Primary: Number of Patients With Engraftment Response — 9 Participants
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 3 N=7 EZN-2279 in Patients With ADA-SCID
ADA-SCID · Adenosine Deaminase Deficiency · Severe Combined Immunodeficiency
Primary: Number of Patients Detoxified At Each Visit in EZN-2279 Treatment Period — 6; 6; 6; 5 Participants
Phase 2 N=12 Use of ACTIMMUNE in Patients With ADO2
Autosomal Dominant Osteopetrosis Type 2
Primary: Changes in Bone Resorption Markers From Baseline to 14 Weeks. — 2.2; -2.1 percentage of change
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
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 3 N=3 Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency
Arginase 1 Deficiency
Primary: Change From Baseline in Plasma Arginine Concentrations in Subjects <24 Months of Age With Arginase 1 Deficiency (ARG1-D). — -221.53 μM
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 1 N=12 Safety Study of Adenovirus/PNP Coupled With Fludarabine Phosphate to Treat Solid Tumors
Head and Neck Cancer
Primary: Number of Participants With Side Effects After Ad/PNP-F-araAMP Treatment — 12; 8; 8; 5 participants
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 3 N=32 Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency
Arginase I Deficiency · Hyperargininemia
Primary: Change From Baseline in Plasma Arginine Concentration After 24 Weeks of Treatment — 0.244; 0.918 micromolar — p=<0.0001
Phase 2 N=46 Autologous CD34+ Hematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1 Alpha Shortened (EFS) Lentiviral Vector Encoding for the Human ADA Gene
ADA-SCID
Primary: Overall Survival (OS) of Subjects Treated With Investigational Medicinal Product (IMP) (1 Year) — 100; 85.71; 100; 92.31 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
Early Phase 1 N=8 Effect of Probenecid on Synovial Fluid ATP Levels in CPPD
Calcium Pyrophosphate Deposition Disease
Primary: ATP Levels in Synovial Fluid — 4.4; 31.4 nanomoles/ml
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 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
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=13 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe Disease
Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL
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 2 N=20 Anti-thymocyte Globulin and Cyclosporine as First-Line Therapy in Treating Patients With Severe Aplastic Anemia
Aplastic Anemia
Primary: Patients Treated With Rabbit Antithymocyte Globulin (r-ATG/Thymoglobulin) and Cyclosporine (CsA) Achieving at Least a Partial Remission (PR) at 6 Months — 9 participants
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Phase 2 N=36 Lentiviral (LV) Gene Therapy for Adenosine Deaminase (ADA) Deficiency
Adenosine Deaminase Deficiency · Severe Combined Immunodeficiencies (SCID)
Primary: Overall Survival (OS) of Subjects Treated With Investigational Medicinal Product (IMP) (1 Year) — 100; 100; 100; 100 percentage of participants
Phase 1 N=9 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency
Alpha 1-Antitrypsin Deficiency
Primary: Adverse Events Possibly, Probably or Definitely Related to Study Drug — 2; 2; 3; 2 participants
N/A N=32 Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Phenylketonuria
Primary: Change in the Plasma Phenylalanine Concentration of PKU Subjects Fed the Glycomacropeptide Diet Compared With the Change When Fed the Amino Acid Diet — 62; -85 micro…
Phase 2 N=54 Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia
Aplastic Anemia
Primary: Participants no Longer Meeting Criteria for Severe Aplastic Anemia. — 18; 17; 9; 9 participants