Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

van der Beek, Nadine AME; de Vries, Juna M; Hagemans, Marloes LC; Hop, Wim CJ; Kroos, Marian A; Wokke, John HJ; de Visser, Marianne; van Engelen, Baziel GM; Kuks, Jan BM; van der Kooi, Anneke J; Notermans, Nicolette C; Faber, Karin G; Verschuuren, Jan JGM; Reuser, Arnold JJ; van der Ploeg, Ans T; van Doorn, Pieter A

doi:10.1186/1750-1172-7-88

Orphanet Journal of Rare Diseases

Table 2 Disease progression in 66 adults with Pompe disease: annual changes in muscle strength and pulmonary function across various subgroups

From: Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

	MRC sumscore			HHD sumscore			QMFT score			FVC sitting position			FVC supine position
Total group	n	Annual change (%/year)	95% CI	n	Annual change (%/year)	95% CI	n	Annual change (%/year)	95% CI	n	Annual change (%/year)	95% CI	n	Annual change (%/year)	95% CI
	65	−1.30	−1.95 to −0.66	55	−2.6	−3.72 to −1.45	62	0.05	−0.76 to 0.86	59	−1.04	−2.14 to 0.06	54	−1.30	−2.42 to −0.19
Subgroups	n	Annual change (%/year)		n	Annual change (%/year)		n	Annual change (%/year)		n	Annual change (%/year)		n	Annual change (%/year)
Gender
• Female	36	−1.41		31	−2.97		37	−0.22		36	−1.38		33	−2.27
• Male	29	−1.08		24	−1.99		25	0.57		23	−0.45		21	0.35
Age at study entry ^a
• < 50 years	34	−1.39		31	−2.06		33	−0.17		33	−1.34		31	−2.22
• ≥ 50 years	31	−1.21		24	−3.29		29	0.30		26	−0.69		23	−0.08
Disease duration at study entry ^a
• < 15 years	34	−0.70 ^c		31	−1.95 ^e		34	−0.07		35	−1.36		33	−1.37
• ≥ 15 years	31	−2.09 ^c		24	−4.18 ^e		28	0.17		24	−0.60		21	−1.16
FVC (sitting) at study entry
• ≥ 80% predicted	33	−0.62 ^d		32	−1.43 ^f		33	−0.21		33	−1.09		31	−1.59
• < 80% predicted	32	−2.21 ^d		23	−4.52 ^f		29	0.31		26	−0.89		23	−0.92
Ventilation at study entry
• No	49	−1.12		46	−2.50		50	0.24		50	−1.30		47	−1.50
• Yes	16	−1.83		9	−3.55		12	−0.70		9	1.07		7	0.32
Wheelchair use at study entry
• No	47	−0.94		44	−2.28		47	−0.39		47	−0.98		43	−0.99
• Yes	18	−2.36		11	−3.92		15	1.44		12	−1.22		11	−2.57
MRC / HHD sum score at study entry ^b
• < 33rd percentile	18	−1.27		10	−2.06		20	0.49		12	−0.30		9	−1.59
• 33rd to 66th percentile	23	−1.31		22	−4.34		23	−0.06		23	−2.40		21	−2.01
• ≥ 66th percentile	24	−0.98		23	−1.56		19	−0.41		24	−0.34		24	−0.63

MRC: Medical Research Council; HHD: Hand-Held Dynamometry; QMFT: Quick Motor Function Test; FVC: Forced Vital Capacity; CI: confidence interval. ^a the median was taken as the cut-off point. ^b categorization in tertiles. n represents the number of patients for whom data were available for each specific measurement. For muscle strength, no sumscore was calculated if measurements for three or more individual muscle groups were missing (e.g. due to severity of muscle weakness or injury). For seven invasively ventilated patients no reliable measurements of FVC could be performed. Neither could testing in the supine position be endured by 5 patients whose pulmonary function was already severely restricted in sitting position.
Data shown are mean annual changes (percentage points per year) as calculated by repeated measures ANOVA. For MRC sumscore and HHD sumscore there were significant differences between groups based on disease duration and FVC at study entry: c) p=0.04, d) p=0.01, e) p<0.01, and f) p<0.01.

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ISSN: 1750-1172

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