TY - JOUR
T1 - Long-term follow-up in PMM2-CDG
T2 - are we ready to start treatment trials?
AU - Witters, Peter
AU - Honzik, Tomas
AU - Bauchart, Eric
AU - Altassan, Ruqaiah
AU - Pascreau, Tiffany
AU - Bruneel, Arnaud
AU - Vuillaumier, Sandrine
AU - Seta, Nathalie
AU - Borgel, Delphine
AU - Matthijs, Gert
AU - Jaeken, Jaak
AU - Meersseman, Wouter
AU - Cassiman, David
AU - Pascale de, Lonlay
AU - Morava, Eva
N1 - Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.
PY - 2019/5/1
Y1 - 2019/5/1
N2 - Purpose: PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution. Methods: We performed data analysis on PMM2-CDG patients’ clinical features according to the Nijmegen CDG severity score and laboratory data. Seventy-five patients (28 males) were followed up from 11.0 ± 6.91 years for an average of 7.4 ± 4.5 years. Results: On a group level, there was no significant evolution in overall clinical severity. There was some improvement in mobility and communication, liver and endocrine function, and strabismus and eye movements. Educational achievement and thyroid function worsened in some patients. Overall, the current clinical function, the system-specific involvement, and the current clinical assessment remained unchanged. On follow-up there was improvement of biochemical variables with (near) normalization of activated partial thromboplastin time (aPTT), factor XI, protein C, antithrombin, thyroid stimulating hormone, and liver transaminases. Conclusion: PMM2-CDG patients show a spontaneous biochemical improvement and stable clinical course based on the Nijmegen CDG severity score. This information is crucial for the definition of endpoints in clinical trials.
AB - Purpose: PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution. Methods: We performed data analysis on PMM2-CDG patients’ clinical features according to the Nijmegen CDG severity score and laboratory data. Seventy-five patients (28 males) were followed up from 11.0 ± 6.91 years for an average of 7.4 ± 4.5 years. Results: On a group level, there was no significant evolution in overall clinical severity. There was some improvement in mobility and communication, liver and endocrine function, and strabismus and eye movements. Educational achievement and thyroid function worsened in some patients. Overall, the current clinical function, the system-specific involvement, and the current clinical assessment remained unchanged. On follow-up there was improvement of biochemical variables with (near) normalization of activated partial thromboplastin time (aPTT), factor XI, protein C, antithrombin, thyroid stimulating hormone, and liver transaminases. Conclusion: PMM2-CDG patients show a spontaneous biochemical improvement and stable clinical course based on the Nijmegen CDG severity score. This information is crucial for the definition of endpoints in clinical trials.
KW - CDG severity scale
KW - PMM2-CDG
KW - coagulation
KW - liver function test
KW - long-term follow-up
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U2 - 10.1038/s41436-018-0301-4
DO - 10.1038/s41436-018-0301-4
M3 - Article
C2 - 30293989
AN - SCOPUS:85054552379
SN - 1098-3600
VL - 21
SP - 1181
EP - 1188
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
ER -