Search for a trial

SMA Motor Map - an extensive neurophysiologic protocol to assess (dys)function of the peripheral motor circuits in SMA

The goal of this research project comprises two important components that are intricately related:1) To define the pathophysiological state of the peripheral motor pathway in patients with SMA and to determine the contribution of the constituting…

A Phase 3 open-label, multicenter study of the safety, efficacy, and pharmacokinetics of intravenous recombinant coagulation Factor VIII Fc-von Willebrand Factor-XTEN fusion protein (rFVIIIFc-VWF-XTEN; BIVV001) in previously treated pediatric patients <12 years of age with severe hemophilia A

To evaluate the safety of BIVV001 in previously treated pediatric subjects with hemophilia A.

The function of CX3CR1 receptors on circulating patrolling monocytes and other leukocytes determine the severity of emphysema in patients with ZZ genotype alpha-1-antitrypsin deficiency

Primary Objective: To identify the variability in the circulation of the number of patrolling monocytes and their expression of CX3CR1 obtained from adult ZZ-AATD patients compared to spouse controls.Secondary Objective(s): (1) To identify if low…

A randomized, double-blind, placebo-controlled, multiple ascending dose study to examine the safety, tolerability and pharmacokinetics of orally administered PHA-022121 in healthy subjects.

Primary ObjectiveTo assess the tolerability and safety of multiple ascending oral doses of PHA-022121 administered after a standard caloric meal in healthy adult subjects.To assess the PK characteristics of PHA-022121 after administration of…

Unique epigenetic, transcriptional, metabolomic and proteomic characterization of the heart in cardiomyopathy patients

Using epigenetic, transcriptional, metabolomic and proteomic approaches in cardiac and skeletal muscle tissue, we want to reveal distinct biological pathways affected in ACM, DCM and PLN r14del cardiomyopathy.

A Phase 3 Double-blind, Randomized, Placebo-controlled Study of the Safety and Efficacy of Odevixibat (A4250) in Patients with Alagille Syndrome (ASSERT)

Primary Objective:To demonstrate the efficacy of repeated daily doses of 120 µg/kg/day odevixibat in relieving pruritus in patients with ALGS.Secondary Objectives:To assess the impact of odevixibat on serum bile acid levels in patients with ALGS.To…

Effectiveness of methylphenidate in children and adults with Smith Magenis syndrome and attention-deficit/hyperactivity disorder: An N-of-1 series

The primary objective is to determine the efficacy of methylphenidate on ADHD symptoms in Smith Magenis syndrome.The secondary objectives include the efficacy of methylphenidate on emotion dysregulation and specific goals that are important to the…

Systematic Hospital-based Assessment of Rotterdam*s critically Ill children,
their Neurodevelopment and Growth

The main objective of this longitudinal study is to gain insight into the neurodevelopmental trajectories following neonatal critical illness, from the perinatal period to school-age compared to healthy controls. This insight may lead to the…

Tiratricol treatment of children with Monocarboxylate Transporter 8 deficiency: Triac Trial II

This study has been transitioned to CTIS with ID 2024-516123-13-00 check the CTIS register for the current data. Part I:Primary Objective: Evaluate the effects of tiratricol on neurodevelopment in young MCT8 deficiency patients, as measured by the…

The Effect of Voxelotor on Cerebral Perfusion and Oxygenation (ESR-C005)

To study the effect of voxelotor on the hemodynamics of the cerebral vasculature (CBF and CVR)

A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects with Classic Congenital Adrenal Hyperplasia

This study has been transitioned to CTIS with ID 2023-503771-13-00 check the CTIS register for the current data. The purpose of this study is to see if tildacerfont can reduce the amount of GC (e.g., hydrocortisone) you need to take and reduce the…

Quantifying Electropathology in Paediatric Patients with Congenital Heart Disease:
an intra-operative epicardial mapping study

To quantify the role of different abnormal loading conditions on atrial and ventricular electropathology in paediatric patients with CHD.

An open-label, single-sequence cross-over drug-drug interaction study to evaluate the effect of single and multiple oral doses of PHA-022121 on the pharmacokinetics of selective CYP1A2, CYP2C19, and CYP3A4 substrates in healthy subjects

The main purpose of this study is to investigate the effect of multiple doses of PHA-022121 on how quickly and to what extent a drug cocktail (a combination of agents consisting of caffeine, omeprazole, and midazolam) is absorbed, distributed,…

The implications of discussing uncertainty in cancer genetic counseling about multigene panel testing for (analogue) patients* cognitive and affective outcomes.

This study aims to examine the effects of different manners in which counselors communicate uncertainty and respond to counselees* uncertainty, on analogue patients* affective and cognitive outcomes. In addition, the results of this study are used…

Maternal telomere length as novel biomarker to assess the risk of SB in offspring.

The primary objective is to study the association between maternal TL and the risk of SB in offspring. The secondary objectives are to investigate the relation between maternal TL and obstetrical (pregnancy course and outcome), environmental risk…

A randomized, double-blind, placebo-controlled, single ascending dose study to examine the safety, tolerability and pharmacokinetics of orally administered PHA-022121 in healthy subjects.

Primary ObjectiveTo assess the tolerability and safety of single ascending oral doses of PHA-022121 administered after a standard meal and of a single 40 mg dose under fasted conditions in healthy adult subjects.To assess the PK characteristics of…

Translating network hyperexcitability in preclinical familial Alzheimer's disease

The main objective of the study is to investigate MEG-based hippocampal and whole brain neuronal hyperactivity in preclinical DIAD mutation carriers and to find proof-of-concept for the translatability of findings from preclinical AD mouse models to…

Respiratory muscle training in patients with Spinal Muscular Atrophy

The aim of this study is to assess the feasibility and efficacy of respiratory muscle training (RMT) in patients with SMA and respiratory muscle weakness.

A 2-Part, Phase 1, Multicenter, Single Dose, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of CSL889 in Adult Patients with Sickle Cell Disease

Primary Objective:To assess the safety and tolerability of single doses of CSL889 administered by IV infusion in subjects with stable SCD and in subjects with SCD in VOCSecondary Objectives:1. To characterize the PK profile of CSL889 after single IV…

A Phase 3b Open-label Study to Assess the Effect of Elexacaftor/Tezacaftor/Ivacaftor on Glucose Tolerance in Cystic Fibrosis Subjects with Abnormal Glucose Metabolism

To evaluate the effect of elexacaftor (ELX)/tezacaftor (TEZ)/ivacaftor (IVA) on glucose tolerance in CF subjects with impaired glucose tolerance (IGT) or CF related diabetes (CFRD)