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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…

Evaluation of plasma chitotriosidase, plasma cytokines and cystine crystal scoring in skin and hair for the non-invasive therapeutic monitoring of nephropathic cystinosis.

Based on this background information and our preliminary data in this project we aim to perform longitudinal study in cystinosis patients to correlate clinical course under cysteamine therapy and 1) Markers of macrophage activation in patients…

Assess the mtDNA mutation load in mesoangioblasts of mtDNA mutation carriers

The primary objectives of this project are to assess the mtDNA mutation load in carriers of a mtDNA mutation and identify patients and/or mutations with with no/low mtDNA mutation load in mesoangioblasts. Secondary objectives aim at determining the…

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…

Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease type IIIa.

To investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…

A Non-Interventional Mechanistic Study to Characterize Biomarkers for Mitochondrial Dysfunction and Inflammation in Subjects with Mitochondrial Disorder and Cardiomyopathy, and Healthy Volunteers

To explore, whether markers of mitochondrial dysfunction measured in isolated PBMCs or immune cell subpopulations differ between subjects with mitochondrial disorders and cardiomyopathy and healthy volunteers.

A feasibility study to evaluate PDE MAX, a food for special medical purposes (FSMP) for use in the dietary management of Pyridoxine Dependent Epilepsy (PDE) with regards to acceptability, tolerability, adherence and effect on metabolic control.

To evaluate product acceptability, tolerance and adherence during an 8-week intake of PDE MAX in patients with Pyridoxine Dependent Epilepsy.To evaluate the effects on metabolic control by comparing the changes from baseline after an 8-week intake…

CareCN: A phase I/II, open-label, study to evaluate the safety and efficacy of an intravenous injection of GNT0003 (Adeno-associated Viral Vector expressing the UGT1A1 transgene) in patients with severe Crigler-Najjar syndrome requiring phototherapy

This study has been transitioned to CTIS with ID 2023-507007-60-00 check the CTIS register for the current data. Primary objectives:Dose escalation part:- To assess the safety and tolerability of an intravenous single-dose administration of GNT0003…

The reliability of the 13C-phenylalanine breath test for phenylketonuria patients: a pilot study

To establish the test-retest reliability of the 13C-PBT for measuring Phe hydroxylation in patients with PKU.

Effectiveness of methylphenidate in adults with phenylketonuria and attention-deficit/hyperactivity disorder: An N-of-1 series

Primary Objective: To determine the effectiveness of methylphenidate in reduction of ADHD symptomatology, operationalized by personalized goals that are important to the patient and its environment, in individuals with late-diagnosed PKU. Secondary…

Plasma oxalate and glycolate levels in patients with chronic kidney disease (CKD stage 4 and 5).

The aim of this study is to establish reference values for plasma oxalate and plasma glycolate levels in patients with chronic kidney insufficiency. Values in patients with PH and secondary hyperoxaluria will be compared to values measured in…

Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients with Fabry Disease

To evaluate the ongoing safety, tolerability, and efficacy parameters of pegunigalsidase alfa in adult Fabry patients who have successfully completed studies PB-102-F20 and PB-102-F30, or completed at least 48 months in study PB-102-F03.

An open-label, single-arm, multicenter study of intracerebral administration of adeno-associated viral vectors serotype rh.10 carrying the human N-sulfoglycosamine sulfohydrolase (SGSH) cDNA for the treatment of mucopolysaccharidosis type IIIA (MPS IIIA)

Primary: To assess the efficacy of intracerebral delivery of AAVrh.10SGSH gene therapy (LYS-SAF302) in improving or stabilizing the neurodevelopmental status of MPS IIIA patients after 24 months (main cohort), compared to the expected evolution…

A Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants with Hunter Syndrome

This study has been transitioned to CTIS with ID 2023-508619-22-00 check the CTIS register for the current data. The primary objective of the study is the following:• To characterize the safety and tolerability of DNL310 in pediatric subjects with…

Solve the Unsolved

Integrating genomic (WES/WGS) and other -omics technology in order to find the genetic cause, in 500 patients (children and adults) with an unexplained metabolic phenotype in whom standard care (genetic and metabolic evaluation) did not provide a…

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…

EFfect of brEastfeeding on lipid profile and cardiovascular risk Markers In womeN with familial hypercholesterolemiA

The aim of this study is to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH). In addition, breast milk composition and the transfer of statins to breast milk…

A multi-center, non-randomized study to characterize biomarkers in cerebrospinal fluid (CSF) of patients with infantile-onset (IOPD) or late-onset Pompe disease (LOPD)

To evaluate Hex4 concentrations in CSF from patients with infantile-onset (IOPD) and late-onset (LOPD) Pompe disease

A PROSPECTIVE, LONGITUDINAL STUDY OF POTENTIAL TREATMENT-RESPONSIVE BIOMARKERS AND CLINICAL OUTCOMES IN HUNTER SYNDROME

The objective of this study is to identify and develop laboratory measurements and other tests that may help develop treatments for Hunter Syndrome and, potentially, related diseases. The information learned from this study may also help doctors,…