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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…

Exploration of Biomarkers in Familial Hypercholesterolemia (FH)

Primary objective is to explore a panel of biomarkers to support the scientific evaluation of BRN-002 as a potential therapeutic agent in the treatment of FH.

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…

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…

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…

Clinical Survey Study to Assess Physical Function and the Incidence of Hypoglycemia in Patients 1 Year of Age and Over with GSD III.

The primary objective of this study is to evaluate the incidence of hypoglycemia in adult and pediatric patients with GSD III. The secondary objective of this study is to evaluate the sensitivity of various muscle strength and function measures to…

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.

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.

Orofacial abnormalities of patients with mucopolysaccharidoses or mucolipidosis II or III in the Netherlands, a singlecenter study

To investigate the prevalence and existence of orofacial abnormalities, in patients with Mucopolysaccharidoses and Mucolipidosis type II and III and how these abnormalities impair the quality of life.

An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa)

To evaluate the safety and efficacy of PRX-102 in patients with Fabry disease currently treated with agalsidase alfa

Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects

This study has been transitioned to CTIS with ID 2024-518652-23-00 check the CTIS register for the current data. Investigating the long-term safety of personalized cholic acid treatment in patients with defects in bile acid synthesis based on…

Open-label, Single-arm, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Evolocumab for LDL-C Reduction, as Add-on to Diet and Lipid-lowering Therapy, in Pediatric Subjects From 10 to 17 Years of Age With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH)

PrimaryTo describe the safety and tolerability of 80 weeks of SC evolocumab when added to standard of care in pediatric subjects 10 to 17 years of age with HeFH or HoFH. Secondary Efficacy* To describe percent change and change from baseline in LDL-…

Prevalence Assessment of Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in Juvenile Idiopathic Arthritis Patients with low inflammatory markers

Primary objective:To determine the prevalence of unrecognized mucopolysaccharidosis (MPS) I (Hurler, Hurler-Scheie, or Scheie syndromes), II (Hunter syndrome), IVA (Morquio syndrome), and VI (Maroteaux-Lamy syndrome) patients among a population of…

A Randomized, Open-Label, Dose Finding, Phase 2 Study to Assess the Pharmacodynamics and Safety of the anti-FGF23 antibody, KRN23, in Pediatric Patients with X-linked Hypophosphatemia (XLH)

The objectives of the study are to:* Identify a dose and dosing regimen of KRN23, based on safety and PD effect, in pediatric XLH patients* Establish the safety profile of KRN23 for the treatment of children with XLH including ectopic mineralization…

Does arginine enhance galactose oxidative capacity in classic galactosemia? A pilot study

The objective of this study is to evaluate the possible effect of arginine on galactose oxidative capacity in 5 patients with classic galactosemia (homozygous for the p.Q188R mutation).

A comparison of Glycosade® and Uncooked Cornstarch (UCCS) for the dietary management of hepatic glycogen storage diseases (GSD)

In light of the variability in response between UCCS and Glycosade® in patients with hepatic GSD (personal communication from authors and published data (Bhattacharya et al. 2007; Correia et al. 2008; Corrado M et al, 2013; Hubert A et al, 2013));…