TY - JOUR
T1 - Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
AU - Achouitar, Samira
AU - Mohamed, Miski
AU - Gardeitchik, Thatjana
AU - Wortmann, Saskia B.
AU - Sykut-Cegielska, Jolanta
AU - Ensenauer, Regina
AU - de Baulny, Hélène Ogier
AU - Õunap, Katrin
AU - Martinelli, Diego
AU - de Vries, Maaike
AU - McFarland, Robert
AU - Kouwenberg, Dorus
AU - Theodore, Miranda
AU - Wijburg, Frits
AU - Grünewald, Stephanie
AU - Jaeken, Jaak
AU - Wevers, Ron A.
AU - Nijtmans, Leo
AU - Elson, Joanna
AU - Morava, Eva
PY - 2011
Y1 - 2011
N2 - Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions
AB - Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions
U2 - https://doi.org/10.1007/s10545-011-9325-5
DO - https://doi.org/10.1007/s10545-011-9325-5
M3 - Article
C2 - 21541726
SN - 0141-8955
VL - 34
SP - 923
EP - 927
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 4
ER -