Details

Autor(en) / Beteiligte

• Witters, Peter
• Honzik, Tomas
• Bauchart, Eric
• Altassan, Ruqaiah
• Pascreau, Tiffany
• Bruneel, Arnaud
• Vuillaumier, Sandrine
• Seta, Nathalie
• Borgel, Delphine
• Matthijs, Gert
• Jaeken, Jaak
• Meersseman, Wouter
• Cassiman, David
• Pascale de, Lonlay
• Morava, Eva

Titel

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Ist Teil von

• Genetics in medicine, 2019-05, Vol.21 (5), p.1181-1188

Ort / Verlag

New York: Nature Publishing Group US

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.