Search for a trial

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.

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…

An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged >= 5 years.

This study has been transitioned to CTIS with ID 2024-518215-18-00 check the CTIS register for the current data. To explore safety, tolerability and efficacy of avalglucosidase alfa in previously treated alglucosidase alfa late-onset Pompe disease…

KETOMY: trail, Safety, efficacy and feasibility of ketogenic diet in mitochondrial myopathy,

Objective: Our proposed pilot study explores the safety, feasibility and efficacy of ketogenic diet in adults with mitochondrial myopathy to improve exercise intolerence and look for biomarkers that might predict patient response to the MAD…

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 Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 678354 Administered Subcutaneously to Patients with Severe Hypertriglyceridemia

This study has been transitioned to CTIS with ID 2024-510696-38-00 check the CTIS register for the current data. Primary objective: To evaluate the efficacy of olezarsen as compared to placebo on the percent change in fasting triglycerides from…

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…

Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series

This study has been transitioned to CTIS with ID 2024-514012-28-00 check the CTIS register for the current data. Assess the neurological efficacy of ambroxol in adults and children with GD3.

An Open-label, Multinational, Multicenter, Intravenous
Infusion Study of the Efficacy, Safety, Pharmacokinetics,
and Pharmacodynamics of avalglucosidase alfa in
Treatment-naïve Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)

This study has been transitioned to CTIS with ID 2024-513859-33-00 check the CTIS register for the current data. The overall objective is to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in male and…

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)…

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA*APOCIII*LRX Administered Subcutaneously to Patients with Familial Chylomicronemia Syndrome (FCS)

Primary objectiveTo evaluate the efficacy of ISIS 678354 as compared to placebo on the percent change in fasting triglycerides (TG) from BaselineSecondary objectives• Proportion of patients who achieve >= 40% reduction in fasting TG from…

The effect of a low carbohydrate- high fat diet on clinical symptoms and gut microbiome in m.3243A>G related mitochondrial disease

To explore the effect of a LCHF diet on clinical symptoms and gut microbiome in MD patients due to the m.3243A>G mutation in mitochondrial DNA.

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial: Multiple Independent Sub-studies of Setmelanotide in Patients with POMC/PCSK1, LEPR, NCOA1 (SRC1) or SH2B1 Gene Variants in the Melanocortin-4 Receptor Pathway

This study has been transitioned to CTIS with ID 2023-507634-24-00 check the CTIS register for the current data. To evaluate the efficacy of setmelanotide on changes in body weight.

An Open-Label Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Bempedoic
Acid in Pediatric Patients (6 to 17 Years of Age) with Heterozygous Familial Hypercholesterolemia

This study has been transitioned to CTIS with ID 2024-515864-30-00 check the CTIS register for the current data. Primary Objectives:• To assess the pharmacokinetics (PK) of bempedoic acid (ETC-1002 and ESP15228) in pediatric patients (6 to 17 years…

An Open-Label Extension Study of AKCEA-APOCIII-LRX Administered Subcutaneously to Patients with Familial Chylomicronemia Syndrome (FCS)

This study has been transitioned to CTIS with ID 2023-509029-29-00 check the CTIS register for the current data. In this study, we look at how safe the new medicinal product ISIS 678354 is for the treatment of FCS. And how well it works.

A Phase 1 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate
the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a
Single Dose of DCR-PHXC in Patients with Primary Hyperoxaluria Type 3

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…

Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3

The purpose of this study is to evaluate the possible risks and efficacy (improvement of disease) with an experimental oral study drug named eliglustat in pediatric patients from 2 to 18 years with Gaucher disease.