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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.

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…

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…

Modifying Orphan Disease Evaluation (MODE) Study: A multicenter, open-label study of the
effects of CER-001 on plaque volume in subjects with Homozygous Familial
Hypercholesterolemia

The purpose of the study is to assess the effects of CER-001, given by intravenous infusion with regards to plaque burden of the carotid arteries and the descending thoracic aorta using 3T magnetic resonance imaging (3TMRI).The objective of the…

A Multicenter, Open-label Study to Assess the Long-term Safety,
Tolerability, and Efficacy of AMG 145 on LDL-C in Subjects With Severe Familial
Hypercholesterolemia

Primary Objective: To characterize the safety and tolerability of long-term administration ofAMG 145 among subjects with severe familial hypercholesterolemia

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 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…

CER-001 Infusions in Subjects with Familial HDL-c Deficiency

Evaluate the effects of CER-001 - adminstered as iv infusion - on plaque size/burden in arteries, plaque inflammation in the artery wall and the rate of cholesterol transport in the body

A 2-Part, Phase 2/3 Study to Assess the Safety, Tolerability and Efficacy of
AMG 145 in Subjects With Homozygous Familial Hypercholesterolemia
Part A - Open-label, Single-arm, Multicenter Pilot Study to Evaluate Safety,
Tolerability, and Efficacy of AMG 145 in Subjects With Homozygous Familial
Hypercholesterolemia
Part B - Double-blind, Randomized, Placebo-controlled, Multicenter Study to
Evaluate Safety, Tolerability and Efficacy of AMG 145 in Subjects

Primary ObjectivePart A: To characterize the effect of 12 weeks of subcutaneous (SC) AMG 145 on percentchange from baseline in low-density lipoprotein cholesterol (LDL-C) in subjects with homozygousfamilial hypercholesterolemiaPart B: To evaluate…

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-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…

A Phase 2b/3 study to evaluate the safety, tolerability, and effects of livoletide (AZP-531), an unacylated ghrelin analog, on food-related behaviors in patients with Prader-Willi syndrome

This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).

A 2-Stage (Open-Label Followed by Randomized Double-Blind, Placebo-Controlled Stage), Phase 2 Trial of Setmelanotide in Patients with Specific Gene Variants in the Melanocortin-4 Receptor Pathway

Primary:• To evaluate the proportion of patients with obesity with genetic variants in a specific gene in the melanocortin-4 receptor (MC4R) pathway who achieve a clinically meaningful reduction in body weight in response to setmelanotide at the end…

A phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency

The primary objective of this study is to evaluate the efficacy of olipudase alfa in adult patients with acid sphingomyelinase deficiency.

A Proof of Concept, Phase IIa, Open Label Study to Evaluate the
Safety and Efficacy of Afamelanotide in Patients with Variegate
Porphyria (VP)-related skin disease.

Main objective: determine whether afamelanotide implants can reduce the severity of the skin disease in patients with VPSecondary objectives: Evaluate the safety and tolerability of afamelanotide in patients with VP. Evaluate the impact of…

Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease

3.1 Primary ObjectiveTo evaluate the safety and tolerability of a single IV dose of SPK-3006 administered at escalating dose levels to participants with clinically moderate LOPD.3.2 Secondary ObjectivesTo evaluate potential efficacy and bioactivity…

A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults with Glycogen Storage Disease Type Ia (GSDIa)

This study has been transitioned to CTIS with ID 2023-504004-29-00 check the CTIS register for the current data. To determine the long-term safety of DTX401 following a single IV dose in adults with GSDIa

A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects with Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) (GALax-C)

This first-in-human study is planned to include both a dose ranging phase and a confirmatory phase, with the intention that all data collected throughout the study may support registration. The dose ranging phase will be conducted in cohorts of 3-4…

A Phase 2b, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of PRV-015 in Adult Patients with Non-Responsive Celiac Disease as an Adjunct to a Gluten-free Diet

Primary objective:To assess the efficacy of PRV-015 in attenuating the symptoms of celiac disease in adult patients with NRCD as measured by the Abdominal Symptoms domain of the Celiac Disease Patient- Reported Outcome (CeD PRO)…