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Using D-Galactose as a food supplement in Congenital Disorders of Glycosylation (CDG)

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation.

An Efficacy and 2-Year Safety Study of Open-label Rosuvastatin in Children and Adolescents (aged from 6 to less than 18 years) with Familial Hypercholesterolaemia

Primary Objectives * To assess the efficacy of rosuvastatin in paediatric patients with familial hypercholesterolaemia. * To establish long-term safety, tolerability and efficacy of rosuvastatin in paediatric patients with familial…

A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (agalsidase beta) in Treatment-Naive Male Pediatric Patients with Fabry Disease Without Severe Symptoms

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…

A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

To evaluate the long-term safety and efficacy of BMN 110 administration at 2.0 mg/kg/qw and 2.0 mg/kg/qow in patients with MPS IVA.

An Open-label (OL) Extension Study evaluating the Long-Term Safety of OxabactTM in Subjects with Primary Hyperoxaluria (PH) who participated in the Double-Blind (DB) Efficacy Study

Primary Objective:To evaluate the Safety of OxabactTM with continued exposure.Secondary Objectives:To obtain additional efficacy data with up to 48 weeks continuous exposure to Oxabact*.

An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (subcutaneous use) in Patients with Primary Hyperoxaluria

This study has been transitioned to CTIS with ID 2024-512260-54-00 check the CTIS register for the current data. PrimaryTo evaluate the effect of DCR PHXC on estimated glomerular filtration rate (eGFR) in participants with PH1Secondary:To identify…

A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy

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…