Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG

Growth faltering is prevalent in 96% of children with Phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). Published long-term growth data is extremely limited. Growth and weight patterns of PMM2-CDG children differ from the general population limiting the utility of existing normative growth charts to track development trajectory in comparison to peers with PMM2-CDG.

Create PMM2-CDG disease-specific height-, weight-, and BMI-for-age reference growth charts (0-20 years).

De-identified growth data was provided by Frontiers in Congenital Disorders of Glycosylation Consortium, CDG Care, Minnesota Partnership for Biotechnology and Medical Genomics, and Glycomine, Inc. Semi-parametric modeling techniques were used to develop PMM2-CDG-specific charts along with nodal-point analyses for quantifying and examining PMM2-CDG growth differences relative to Centers for Disease Control (CDC) reference using one-sided quantile tests.

Data of 156 children (females n = 75) with PMM2-CDG from 1614 visits were used to create height-, weight- and BMI-for-age growth curves. Median follow-up was 8.5 years (SD 4.5) for females and 6.8 years (SD 4.4) for males. CDG females were 13 cm shorter than their CDC reference peers at 20 years (150 vs 163 cm), and males were 16 cm shorter (160 vs 176 cm). All weight and height nodal points were significantly different (p < 0.05) at each age (4, 8, 12, 16, 20 years).

PMM2-CDG specific reference charts can help enable the detection of deviations from peer growth patterns, aid in early detection of coexisting endocrinopathies, help guide treatment decisions and evaluate the effectiveness of new disease-modifying treatments in clinical trials.