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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 Phase III, Multicentre, Double-Blind, Randomised, Placebo-Controlled Study to Confirm the Safety and Efficacy of Subcutaneous Bioresorbable Afamelanotide Implants in Patients with Erythropoietic Protoporphyria (EPP).

Primary objective: - To determine whether afamelanotide can reduce the severity of phototoxic reactions in patients with EPPSecondary objectives:- To determine whether afamelanotide can reduce the number of phototoxic reactions in patients with EPP…

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study
Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher
Disease Type 1

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…

Newborn screening outcomes of mixed blessing

In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…

A 12-month Longitudinal, Prospective, Observational, Natural History Study of Patients with Sanfilippo Syndrome Type A (MPS IIIA)

1. Primary Objective(s) The primary objective(s) of this study are to:* Evaluate the course of disease progression in patients with MPS IIIA who are untreated with any investigational products to inform possible future treatment studies * Determine…

A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz 112638 in Patients with Gaucher Disease Type 1 who have been Stabilized with Cerezyme

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…

A PHASE III TRIAL OF ALD-101 ADUVANT THERAPY of UNRELATED UMBILICAL CORD BLOOD TRANSPLANTATION (UCBT) IN PATIENTS WITH INBORN ERRORS OF METABOLISM

Primary objective of this study is: To assess the efficacy of adjuvant therapy of ALD-101 in accelerating platelet engraftment in patients also receiving a standard unrelated UCBT for treatment of inborn errors of metabolismThe secondary objective…

IPA/ Erasmus MC Pompe Survey

The aim of the Survey is to better understand the variability and progression of Pompe disease and to continue to monitor and evaluate the long-term effects of available treatment options and support measures including ERT with alglucosidase alpha…