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A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Biodistribution, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

To evaluate the safety and tolerability of IV administration of SBC-103 in subjects with MPS lllB, Sanfilippo B.

A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase deficiency

The primary objective of this study is to evaluate the safety of sebelipase alfa in a more broad population of subjects with LAL Deficiency than have been previously studied.The secondary objectives of this study are (1) to evaluate effects of…

The effect of phenylalanine supplementation on metabolic control in Tyrosinemia Type 1 patients.

The primary objective of this study is to investigate the effect of different levels of oral phenylalanine supplementation on the blood concentration and diurnal variation of phenylalanine and tyrosine in HT1 patients treated with NTBC. This in…

Mastication training in adult patients with mitochondrial diseases: a pilot study.

The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .

Open-Label Extension Study of EFC12492, R727-CL-1112, EFC12732 and LTS11717 Studies to Assess the Long-Term Safety and Efficacy of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia

Primary objective* To assess the long-term safety of alirocumab when added to currently available lipid-modifying drug therapy in patients with heterozygous familial hypercholesterolemia (heFH) who have completed one of the following studies:…

An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease.

Primary Objective(s): To evaluate long-term safety in patients with mucopolysaccharidosis type IIIA disease (MPS IIIA or Sanfilippo Type A) who received HGT-1410Secondary Objective(s):To evaluate:• The long-term cognitive function as measured by the…

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 Placebo-controlled, Double-blind, Randomised, Parallel-group, Long-term Phase III Trial Assessing the Safety and Efficacy of 50 microgram and 100 mircrogram/day of eprotirome in Patients with Heterozygous Familial Hypercholesterolaemia who are on Optimal Standard of Care

The primary objective of this study is to compare the efficacy of eprotirome 50 microgram and eprotirome 100 micorgram versus placebo in terms of the percent change in LDL-C from baseline to Week 12 in HeFH patients with CAD, or who are at high risk…

A First-in-Human (FIH), Randomized, Dose-Escalation, Double-Blind, Placebo-Controlled Study to Assess Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SPC5001 Administered to Healthy Subjects and Subjects with Familial Hypercholesterolemia (FH)

- To evaluate the safety and toleration of SPC5001 in healthy subjects and in subjects with FH.- To assess the lipid lowering effect of SPC5001 in healthy subjects and in subjects with FH.- To assess the pharmacokinetics of SPC5001 in healthy…

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…

Bioequivalence of Orfadin suspension 4 mg/mL compared to Orfadin capsules 10 mg, and the effect of food on the bioavailability of the suspension.
An open-label, randomized, cross-over, single-dose study in healthy volunteers.

The primary objective of this study is to show bioequivalence between nitisinone oral suspension and nitisinone capsules.Secondary objectives of this study are:- To assess the effect of food on the bioavailability of nitisinone oral suspension.- To…

A Double-blind, Randomized, Placebo-controlled, Multicenter Study to;Evaluate Tolerability and Efficacy of AMG 145 on LDL-C in Subjects with;Heterozygous Familial Hypercholesterolemia

Primary: To evaluate the effect of 12 weeks of subcutaneous (SC) AMG 145, compared with placebo, on percent change from baseline in low-density lipoprotein cholesterol (LDL-C) in subjects with heterozygous familial hypercholesterolemia.Secondary…

A 12-week, open-label, dose-escalating, phase 2 study to evaluate the effects of MBX-8025 in patients with Homozygous Familial Hypercholesterolemia (HoFH) (study CB8025-21427)

Primary: To evaluate the effect of MBX-8025 on LDL-C.Secondary: To evaluate the effects of MBX-8025 on other lipid parametersTo evaluate the safety and tolerability of MBX-8025.To evaluate steady-state trough plasma levels of MBX-8025 and its…

A 12-week, open-label, dose-escalating, phase 2 study to evaluate the effects of MBX-8025 in patients with Homozygous Familial Hypercholesterolemia (HoFH) (study CB8025-21427)

Primary:To evaluate the effect of MBX-8025 on LDL-C.Secondary:To evaluate the effects of MBX-8025 on other lipid parameters. To evaluate the safety and tolerability of MBX-8025. To evaluate steady-state trough plasma levels of MBX-8025 and its…

Effect of bezafibrate on very long chain fatty acid (VLCFA) metabolism in men with X-linked adrenoleukodystrophy.

The trial is designed as an open-label pilot study. The main goal is to investigate if bezafibrate can reduce VLCFA in vivo in patient with X-ALD. If there is indeed a biochemical effect, a large follow-up study will be initiated with clinical…

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 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…

A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to evaluate the Efficacy and Safety of SAR236553 (REGN727) in Patients With Heterozygous Familial Hypercholesterolemia and LDL-C higher or equal to 160mg/dL with Their Lipid-Modifying Therapy

The objective of the study is to assess the efficacy and safety of Alirocumab in patients with heterozygote familial hypercholesterolemia whose LDL-C level is higher than or equal to 160 mg/dL (4.14 mmol/L) on maximally tolerated statin therapy with…

Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects.

To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder

A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727/Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy

The objective of the study is to assess the efficacy, tolerability and safety of SAR236553/Alirocumab when administered during 1.5years in patients with heterozygote familial hypercholesterolemia, who despite of lipid lowering therapy still have…