Table 3.

Genotype factors and their association with motor function in low‐ROB studies

Factor	Study/ROB	Treatment	Subgroup		N	Outcome	Median change in score (range) unless otherwise specified		Statistical significance between subgroups (P‐value)
SMN2 copy number (E)	Aragon‐Gawinska, 2018 67	Nusinersen	2 copies		14	HINE‐2 (6 months f/u)	1.5 (–1, 4)		>0.05
			3 copies		16		1.5 (0, 9)
			2 copies		12	CHOP‐INTEND (6 months f/u)	3.5 (–2, 11)		>0.05
			3 copies		10		4 (–2, 14)
	Pechmann, 2018 68	Nusinersen	≤2 copies		38	CHOP‐INTEND (6 months f/u)	Mean: 8.1 (SD: 7.0)		>0.01
			≥3 copies		20		Mean: 8.2 (SD: 5.3)
SMN2 copy number (M)	Swoboda, 2005 65	Unspecified	1 copy		1	Functional status: Unable to sit	0%		<0.001
			2 copies		22		55%
			3 copies		41		17%
			4 copies		14		14%
			5 copies		3		0%
			1 copy		1	Functional status: Sits unsupported	0%
			2 copies		22		4%
			3 copies		41		68%
			4 copies		14		79%
			5 copies		3		33%
			1 copy		1	Functional status: Walks/cruises	0%
			2 copies		22		0%
			3 copies		41		15%
			4 copies		14		7%
			5 copies		3		67%
SMN2 copy number (L)	Mercuri, 2018 CHERISH 52	Nusinersen	2 copies	Nusinersen	9	Change from baseline in HFMSE score to Month 15	3.3	5.6 a	NR
				Sham			−2.3
			3 copies	Nusinersen	87		4.1	4.4 a
				Sham			−0.3
			4 copies	Nusinersen	2		5.0	15 a
				Sham			−10.0
			Unknown	Nusinersen	2		2.0	NC
				Sham			NC

CHOP‐INTEND, Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders; E, early‐onset (Type 1 population); f/u, follow‐up; HFMSE, Hammersmith Functional Motor Scale – Expanded; HINE‐2, Hammersmith Infant Neurological Examination, Section 2; L, later‐onset (Types 2/3) population; M, mixed SMA type population; NC, not calculated; NR, not reported; ROB, risk of bias; SD, standard deviation; SMN2, survival of motor neuron 2.

^a Treatment difference.