Table 2.
Studies investigating HRQoL and pain in adults with XLH
| Publication/study information | Patient population | Pain/HRQoL data | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Reference | Publication type(s) | Study design | Country | Sample size | Female, n (%) | Available data for average age, years | XLH-specific treatment, n (%) | Pain medication (% of sample) | Study instruments | Results |
| Che et al. (2016) [10, 46]; Briot et al., 2014 [47] | Conference abstract [46] and journal articles [10, 47] | Paired- cohort study | France | 52 | 37 (71%) | Mean (SD), 42 (13) | Phosphate supplements, 31 (65%); vitamin D 29 (59%); vitamin D analogues 32 (67%) at the time of the study | Analgesics (31%), NSAIDs (24%) | HAQ, RAPID3, SF-36, VAS | Mean (SD) scores: HAQ, 0.69 (0.56); RAPID3, 12.1 (6.4); SF-36 PCS, 49.5 (20.5); SF-36 MCS, 57.9 (21.3); VAS, 50.0 (26.0) |
| Forestier-Zhang et al. (2016) [11, 72] | Conference abstract [72] and journal article [11] | Survey | UK | 24a | 19 (79%) | Mean (SD), 46 (16) | NR | NR | EQ-5D-5L, VAS | EQ-5D-5L: anxiety/depression (58% of patients), pain/discomfort (92%), mobility problems (88%), problems with usual activity (75%), problems with self-care (50%); VAS, 60.8 (26.9) |
| Insogna et al. (2018) [12] | Journal article | Randomized, double-blind, placebo-controlled, phase 3 trial | USA, France, UK, Ireland, Italy, Japan, South Korea | 134 | 87 (65%) | Mean (SD), 40 (12) | Phosphate and vitamin D metabolites or analogues ever, 121 (90%); phosphate alone, 4 (3%); vitamin D metabolites or analogues alone, 6 (5%) | Any pain medication (68%), any opioid (22%) | BPI | BPI worst pain > 6.0 at baseline: n = 96 (72%) |
| Parisi et al. (2016) [73] | Conference abstract | Case-control study | NR | 9 (and 9 individuals without XLH) | NR | Mean (SD), 54 (5) | NR | NR | Functional measures (ABC, LEFS) | Mean (SD) scores: ABC percentage of self-confidence in perceived balance and fall risk, 62.3 (17.6) vs 95.9 (3.1) [p = 0.001]; LEFS, 0.45 (0.19) vs 0.98 (0.02) [p = 0.0001] |
| Pinedo-Villanueva et al. (2017) [74] | Conference abstract | Survey | UK | 31 (aged ≥ 16 years) | 20 (65%) | Median (range), 48 (16–79) | NR | NR | SF-36v1 | Mean scores: emotional well-being, 73.7; role limitations due to emotional problems, 71.0; role limitations due to social functioning, 65.3; pain, 49.6; physical functioning, 45.6; general health perceptions, 45.8; energy/vitality, 41.3; role limitations due to physical health, 45.6 (general UK population norms were higher in all dimensions) |
| Ruppe et al. (2014) [75] (2016) [76, 77] | Conference abstracts [75, 77] and journal article [76] |
Phase 1/2, open-label, dose-escalation trial |
NR | 28 | 17 (65%; n = 26) | Mean (SD), 42 (14; n = 26) | NR | NR | SF-36v2, WOMAC | Mean (SD) scores at baseline: SF-36v2 PCS, 41.4 (10.3); SF-36v2 MCS, 52.3 (10.3); WOMAC physical functioning, 29.3 (21.3); WOMAC stiffness, 42.8 (20.9) |
| Ruppe et al. (2016) [50] | Conference abstract | Phase 1/2, open-label extension study | NR | 20 | 14 (70%) | Mean (range), 50 (23–69) | KRN23 (last dose ≥ 12 months at enrolment) | NR | BPI | Mean (range) scores at baseline: BPI pain at its worst in the past 24 h, 6.6 (3–10), BPI pain interference, 4.2 (1–9) |
| Skrinar et al. (2015) [13] | Conference abstractb | Survey | 16 countries (70% participants in USA) | 195 | NR | Mean (range), 46 (18–74) | NR | Regular pain medication use (69%), opiates (20%) | BPI, WOMAC, SF-36v2 | Mean scores: BPI pain severity, 3.6; BPI pain interference, 4.1 (data for other scores not provided) |
| Skrinar et al. (2015) [14] | Conference abstractb | Survey | NR | 150 | NR | Median (range), 46 (18–73) | Phosphate/vitamin D therapy, 93 (62%) | Any pain medication (70%), narcotics (18%) | BPI, WOMAC, SF-36v2 | Mean scores: SF-36 bodily pain, 39.2; SF-36 physical functioning, 35.7; BPI pain severity, 3.6; BPI pain interference, 4.2; WOMAC pain severity, 7.9; WOMAC physical function, 27.4 |
Data are presented as available in the publications. Publications reporting the same study have been grouped. Where both a congress abstract and a journal article were published on a specific study, data from the article are presented
The BPI is scored from 0 to 10 with higher scores indicating worse pain; the HAQ is scored from 0 to 3 with higher scores indicating worse health; RAPID3 is scored from 0 to 3 with higher scores indicating worse health; the SF-36 is scored from 0 to 100 with higher scores indicating better QoL
aThis study also included adults with osteogenesis imperfecta and fibrous dysplasia; only data for adults with XLH are presented here
bThese abstracts present different data from the same study; this study has been published as a journal article since the systematic review was performed [6]
ABC, Activities-Specific Balance Confidence; BPI, Brief Pain Inventory; EQ-5D-5L, 5-level EuroQol 5-dimension questionnaire; HAQ, Health Assessment Questionnaire; HRQoL, health-related quality of life; LEFS, Lower Extremity Functional Scale; MCS, Mental Component Summary; NR, not reported; NSAID, nonsteroidal anti-inflammatory drug; PCS, Physical Component Summary; QoL, quality of life; RAPID3, Routine Assessment of Patient Index Data 3; SD, standard deviation; SF-36, 36-item Short-Form Health Survey; v1, version 1; v2, version 2; VAS, visual analogue scale; WOMAC, Western Ontario and McMaster Universities Osteoarthritis Index; XLH, X-linked hypophosphataemia