14 results
This study will evaluate the efficacy and safety of 2.0 mg/kg/week and 2.0 mg/kg/every other week BMN 110 in patients with mucopolysaccharidosis IVA (Morquio A Syndrome). This study will compare the effects of 24 weeks of infusions of BMN 110 at…
The objectives of this open-label study are to evaluate the efficacy (GL-3 clearance), pharmacokinetics (PK), and safety parameters (including immunogenicity) for 2 alternative dose regimens of Fabrazyme (0.5 mg/kg every 2 weeks [q2w] and 1.0 mg/kg…
The primary objective of this study is to confirm the efficacy and safety of Genz 112638 after 39 weeks of treatment in patients with Gaucher disease type 1.The secondary objective of this study is to determine the long term efficacy, safety, and…
The purpose of this study is to compare the effect of AT1001 (migalastat hydrochloride) versus placebo on GL-3 in the kidney.
The primary objective of this study is to assess the efficacy and safety of Genz-112638 compared with Cerezyme after 52 weeks of treatment in patients with Gaucher disease type 1 who have been stabilized with Cerezyme. The secondary objective of…
Primary Objective:To evaluate the efficacy of Oxabact TM to reduce urinary oxalate levels from Baseline to Week 24 in subjects with Primary Hyperoxaluria (PH).Secondary Objectives:To evaluate:* Percentage of subjects who have 20% or greater…
Primary Objective:To evaluate the efficacy of OxabactTM to reduce urinary oxalate levels (molar oxalate to creatinine ratio) from Baseline to Week 24 in subjects with Primary Hyperoxaluria (PH).Secondary Objectives- To evaluate the safety of…
The primary objective is to demonstrate the superiority versus placebo of a 4 weeks intranasal OT administration on oral skills assessed by the Neonatal Oral-Motor Assessment Scale (NOMAS) in infants with PWS aged less than or equal to 3 months at…
This study has been transitioned to CTIS with ID 2023-509715-91-00 check the CTIS register for the current data. Primary:•To compare the effect of venglustat with standard of care Fabry therapies on left ventricular mass index over 18 months in…
Primary objective:To evaluate the safety and tolerability of a single dose of DCR-PHXC in patients with PH3Secondary objectives:To characterize the plasma PK of a single dose of DCR-PHXC in patients with PH3To assess the efficacy of a single dose of…
Primary:To assess the efficacy of DCR-PHXC in reducing urinary oxalate burden in patients with PH (types 1 and 2)Key Secondary:To assess the efficacy of DCR-PHXC in reducing urinary oxalate burden over time in patients with PHSecondary:1. To…
Primary:- To evaluate the efficacy of Oxabact® following 52 weeks treatment in patients with maintained kidney function but below the lower limit of the normal range (eGFR < 90 ml/min/1.73 m2) and a total plasma oxalate concentration >…
Primary* Evaluate the safety and tolerability of single- and multiple-ascending doses of ALN-GO1, respectively, in healthy adult subjects and in patients with PH1Secondary* Characterize the pharmacokinetics (PK) of ALN-GO1* Evaluate the…
The overall objective of this study is to evaluate the efficacy and safety of neoGAA in treatment-naïve patients with LOPD as compared to alglucosidase alfa, when this is administered biweekly for a period of 49 weeks. Also, there is an open-label…