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Evaluation of the oral uracil loading test as a sensitive, simple and cheap method to detect DPD deficiency.

The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency

Prevention of communicative decline in the cognitively impaired. Intervention on disordered perceptive and productive functions.

Aim of this project is to diagnose hearing impairment, and underlying disorders in speech perception and production, and to develop and implement adequate intervention techniques, which are subsequently evaluated. The ultimate goal is to prevent…

Improving an active lifestyle and sports participation in adolescents and young adults with meningomyelocele (MMC): Optimalisation and evaluation of an intervention.

The purpose of this study is to improve, implement and evaluate an intervention program to improve physical activity in daily life and sportsparticipation of adolescents and young adults with MMC. The purpose of the intervention "Active…

A Phase 2 Efficacy and Safety Study of Niraparib in Men with Metastatic Castration-
Resistant Prostate Cancer and DNA-Repair Anomalies

Primary objective:- To assess the efficacy of niraparib in subjects with measurable mCRPC and who have either biallelic DNA-repair anomalies in BRCA (BRCA 1 and BRCA 2 or germline BRCA. Secondary objectives:- To assess the efficacy of niraparib in…

A Phase IIb open-label, multi-centre, extension study to explore the long-term safety and efficacy of KH176 in subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G mutation who have completed the KHENERGYZE study KH176-202.

The primary objective of this study is to enable continued treatment with the study drug sonlicromanol for patients who have completed study KH176-202 and to investigate the safety and tolerability of sonlicromanol over an 12 months treatment period…

AN OPEN-LABEL, FIXED-SEQUENCE, ASCENDING-DOSE, FIRST-IN-HUMAN STUDY TO ASSESS THE SAFETY, TOLERABILITY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF INTRAVENOUS INFUSIONS OF ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH POMPE DISEASE

To evaluate the safety, tolerability, PK, PD and efficacy of intravenous (IV) ATB200 alone and when co-administered with oral AT2221.

An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of prenatal and/or postnatal infusion of allogenic expanded fetal mesenchymal stem cells for the treatment of severe Osteogenesis Imperfecta compared with historical and untreated prospective controls.;In the Netherlands patients will not be treated. Retrospective and prospective control patients will be included

This study has been transitioned to CTIS with ID 2023-504593-38-00 check the CTIS register for the current data. 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…

A Phase 1/2, Open-Label Safety and Dose-Finding Study 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)

Primary Objective: To determine the safety of single intravenous (IV) doses of DTX401 in adultswith GSDIa, including the incidence of dose-limiting toxicities (DLTs).Secondary Objective:To establish a dose of DTX401 that achieves symptom-free…

A Phase I/II, Single-Arm, Open-label Study to Evaluate the Pharmacokinetics, Safety/Tolerability and Efficacy of the Selumetinib Granule Formulation in Children Aged >= 1 to < 7 Years with Neurofibromatosis Type 1 (NF1) Related Symptomatic, Inoperable Plexiform Neurofibromas (PN) (SPRINKLE)

Primary objectives:- To determine the PK of selumetinib after administration of the selumetinib granule formulation. - To assess the safety and tolerability of the selumetinib granule formulation.

A Phase 2, Multicenter, Multinational, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of ORGN001 (formerly ALXN1101) in Pediatric Patients with Molybdenum Cofactor Deficiency (MoCD) Type A Currently Treated with Recombinant Escherichia coli-derived Cyclic Pyranopterin Monophosphate (rcPMP)

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 (…