17 results
To evaluate the performance of a *genotype first approach* (WES-based panel analysis) in diagnostics of genetic predisposition in children with cancer or neoplasms, compared to the current *phenotype first approach* (standard of care). In particular…
Primary objective of this study is to significantly reduce relevant (moderate/severe) parenchymatous brain injury on postoperative MRI for the total group (both prenatal and postnatal diagnosis) and the prenatal diagnosis group, which is needed to…
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…
To investigate the relationship between body composition and parenteral nutrition in children with intestinal failure at 6 months corrected age. The ultimate goil of this study is to optimize the treatment of children with intestinal failure by…
The overall objective is to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in male and femaleparticipants less than or equal to 6 months of age with IOPD.
The aim of this trial is to infuse multiple doses of human 1st trimester liver-derived MSC for the treatment of severe OI to determine the safety, tolerability and clinical effectiveness of prenatal and/or postnatal infusion of same-donor fetal MSC…
Part I:Primary Objective: Evaluate the effects of tiratricol on neurodevelopment in young MCT8 deficiency patients, as measured by the Gross Motor Function Measure (GMFM)-88 and Bayley Scales of Infant Development (BSID-III) Gross Motor Skill Domain…
Comparison of prenatal and postnatal cardiac function assessed by echocardiography using 2-D, 3-D, pulsed wave Doppler, Tissue Doppler and speckle tracking (strain and strain rate) between fetuses/neonates with structural heart disease, fetuses/…
Assess the potential efficay of L-serine dietary supplementation in patients children with a GRIN2B LoS mutation.
The main objective is to research the practicability of postoperative fLTB through the endotracheal tube, right before/during planned extubation in the intensive care unit (ICU) in newborn babies after EA correction.
The primary objective of the study is the following:• To characterize the safety and tolerability of DNL310 in pediatric subjects with MPS II (all cohorts)The secondary objectives of the study are as follows:• To characterize the CNS effects of…
The aim of this study is to identify genetic determinants that are associated with successful immune tolerance induction in patients with haemophilia A and inhibitors.
Primary Objective: To evaluate the efficacy of ION373 in improving or stabilizing gross motor function in patients with Alexander disease Secondary Objectives: To further evaluate the efficacy of ION373 in improving or stabilizing disease…
The primary objective is to demonstrate the superiority versus placebo of a 4 weeks intranasal OT administration on oral skills assessed by the Neonatal Oral-Motor Assessment Scale (NOMAS) in infants with PWS aged less than or equal to 3 months at…
PrimaryTo evaluate the effect of DCR PHXC on estimated glomerular filtration rate (eGFR) in participants with PH1Secondary:To identify the proportion of participants with normalized or nearnormalized 24 hour urinary oxalate (Uox)2. To identify the…
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…
Primary:• To evaluate the safety of ORGN001 (formerly ALXN1101) over the first 6 months of treatmentSecondary:• To characterize the pharmacokinetics (PK) of increasing doses of ORGN001 (formerly ALXN1101) • To evaluate the effect of ORGN001 (…