Table 2.

Clinical studies assessing PROs in patients with MPS, excluding ERT trials

Reference	MPS type	N	Age (yrs)	PRO instrument
[40]	MPS IH	41	NAa	VABS
[39]	MPS IH	47	Mean 10.5	VABS II CHQ
[34]	MPS II	27	5–41	FIM
[31]	MPS II	10	Mean 23.2	FIM Personality tests: Y-G test, Tree-drawing test Psychological tests: GHQ-60, STAI
[38]	MPS II	50	Mean 6.0	Different standardized tests for cognitive, adaptive, language, and motor functions
[35]	MPS II	29	Mean 11.5	MPS HAQ
[27]	MPS II	96 patients & caregivers	Mean 14.2	CHAQ HS-FOCUSb CHQ HUI3
[36, 43]	MPS II	73 patients & parents	Mean 12.5	PedsQL Peds QL Family Impact Module VABS II
[37]	MPS II	15	10.8	VABS II CHQ BASC-2
[14]	MPS IVA	326	1–73	(C)HAQ
[11]	MPS IVA	325	Mean 14.5	MPS HAQ
[8, 28]	MPS IVA	63 patients 56 caregivers	5–17 years (N = 36) ≥18 years (N = 27)	Patients: EQ-5D, APPT (<18 years)/BPI-SF (≥18 years), fatigue question Caregivers : caregiver questionnaire, ZBI
[30]	MPS IVA	20	NA	ASEBA ASR/ OASR SF-36 BPI
[41]	MPS VIA	24	10–17 (N = 10) 18–54 (N = 14)	EQ-5D
[13]	MPS VI	121c	4–56	(C)HAQ
[15]	MPS I, II, III, IV, VI	55	Median 11.3	MPS-specific questionnaire NCCPC-Rd FPS-Rd Pain VASd SF-36d PedsQL
[42]	MPS I, II, IVA, IVB, VI	81	≥18	EQ-5D

^amean age at transplant was 21.7 months; mean years of follow-up from transplant was 67.2 months

^bHS-FOCUS completed by 53 patients aged ≥12 years

^cDisability, Pain and Arthritis scores for 91, 90, and 81 patients ≤18 years, respectively and Disability and Pain scores for 29 and 28 patients >18 years, respectively

^dNCCPC-R was completed by parents of patients <8 years or with intellectual disability (N = 35) and the FPS-R by patients 8–18 years with no intellectual disability (N = 11); eight patients completed the Pain VAS, 16 patients over 18 years completed the SF-36; 35 participants (patients or parents) completed the PedsQL

NA not available