Pediatric Metabolic Diseases

Projects

Projects per year 2015 2020 2021 2023 2028

• 12 Active
• 24 Finished

Projects per year

Search results

• Finished

  Blue Daisy CTA: An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human Nsulfoglucosamine sulfohydrolase (SGSH) cDNA for the ...

  Bosch, A. (Principal investigator) & Brands, M. (Project Leader)

  Blue Daisy Association

  18/11/2024 → 31/12/2024

  Project: Research

• Voorzetting onderzoek Sanfilippo: Voorzetting onderzoek Sanfilippo

  Bosch, A. (Principal investigator) & Wijburg, F. (Project Member)

  Amsterdam UMC Foundation

  01/02/2024 → 01/02/2025

  Project: Research

• PhD Scholarship 2024 M.Simon: New therapeutic approach for cystinosis based on in-depth study of cystine metabolism

  van Karnebeek, C. (Principal investigator)

  Stichting Steun Emma Kinderziekenhuis

  01/10/2023 → 30/06/2025

  Project: Research

• PSA-PKU vervolg: PSA-PKU 2.0 project in relation to UMCG

  Bosch, A. (Principal investigator)

  UMCG

  01/01/2023 → 31/12/2023

  Project: Research

• Galactosemia: The search for new insights into the pathophysiology of galactosemia

  Bosch, A. (Principal investigator)

  Stichting Metakids

  01/01/2023 → 30/06/2024

  Project: Research

• Evinacumab in hoFH children: CTCA Results in Homozygous Familial Hypercholesterolemia Upon Intensive LDL-C Lowering Treatment with Evinacumab

  Bosch, A. (Principal investigator) & Corpeleijn, W. (Project Leader)

  Ultragenyx Pharmaceutical, Inc.

  21/06/2022 → 12/12/2023

  Project: Research

• EMDR: EMDR en preconceptie screening

  Wijburg, F. (Project Leader)

  Amsterdam UMC Foundation

  01/01/2022 → 31/12/2023

  Project: Research

• Cannabidiol (CDB olie): Cannabidiol (CBD olie) voor de behandeling van gedragsproblemen bij patiënten met Sanfilippo

  Wijburg, F. (Project Leader)

  Amsterdam UMC Foundation

  01/01/2022 → 31/12/2023

  Project: Research

• Lp(a) Levels in 4,000 Children referred to a Pedia: Lp(a) Levels in 4,000 Children referred to a Pediatric Lipid Clinic: Association with Atherosclerosis

  Wiegman, A. (Principal investigator)

  Silence Therapeutics Plc

  15/11/2021 → 14/02/2023

  Project: Research

• Akcea - IST Peds: Akcea - IST Peds

  van Karnebeek, C. (Principal investigator)

  Akcea Therapeutics Inc.

  21/10/2021 → 30/06/2025

  Project: Research

• Elucidating Classical Galactosemie: the search for: Elucidating Classical Galactosemie: the search for modifier genes

  Bosch, A. (Principal investigator)

  Stichting Steun Emma Kinderziekenhuis

  01/09/2021 → 01/07/2023

  Project: Research

• Programma coördinator UMD: Programma coördinator UMD

  van Karnebeek, C. (Principal investigator)

  Stichting Metakids

  01/05/2021 → 31/12/2024

  Project: Research

• EJPRD Charlie: CHAnging Rare disorders of LysInE metabolism - CHARLIE

  van Karnebeek, C. (Principal investigator)

  ZonMw

  01/05/2021 → 30/04/2025

  Project: Research

• PKU: Determination of the suitability of protein substitutes for management of PKU to be introduced in the Netherlands

  Bosch, A. (Principal investigator)

  UMCG

  01/03/2021 → 01/09/2022

  Project: Research

• Living with Galactosemia: Living with Galactosemia

  Bosch, A. (Principal investigator)

  Stichting Metakids

  01/01/2021 → 14/11/2022

  Project: Research

• GRIN2B: L-serine - Effectiveness of Lserine supplementation in children with GRIN2B deficiency: nof1 series

  van Karnebeek, C. (Principal investigator)

  Stichting Metakids

  01/11/2020 → 31/10/2024

  Project: Research

• N-of-1 for all: Scoping Literature Review of treatments, effects, evidence for Inborn errors of Metabolism and Tranlation of this review into data for IEMbase.

  van Karnebeek, C. (Principal investigator) & Brands, M. (Project Leader)

  Stichting Metakids

  01/11/2020 → 31/10/2024

  Project: Research

• Biomarkers voor klassieke galactosemie: Biomarkers voor klassieke galactosemie

  Bosch, A. (Principal investigator)

  Stichting Steun Emma Kinderziekenhuis

  01/07/2020 → 31/12/2021

  Project: Research

• SOBI003-001: An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients

  Wijburg, F. (Project Leader)

  Swedish Orphan Biovitrum BVBA/SPRL

  01/01/2020 → 01/01/2021

  Project: Research

• PDE KLIK: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: delineation of disease course & treatment effects

  van Karnebeek, C. (Principal investigator)

  Stichting Metakids

  01/12/2019 → 31/12/2024

  Project: Research

• UMD 2019-2023: United for Metabolic Diseases

  van Karnebeek, C. (Principal investigator)

  Stichting Metakids

  01/05/2019 → 31/08/2023

  Project: Research

• Elikids: 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

  Wijburg, F. (Project Leader)

  Sanofi Nederland

  26/02/2019 → 05/04/2023

  Project: Research

• FON TCU: Fonds Op Naam Transitie Care Unit .

  van Karnebeek, C. (Principal investigator)

  Stichting Steun Emma Kinderziekenhuis

  01/01/2019 → 30/04/2021

  Project: Research

• Dieet App: Nederlandse App Suite ter ondersteuning van het metabool dieet voor erfelijke stofwisselingsziekten

  van Karnebeek, C. (Principal investigator)

  Stichting Metakids

  01/02/2018 → 31/12/2024

  Project: Research