Table 1.
Baseline characteristics of the study population
| Baseline characteristic | Study population (N = 186) |
|---|---|
| Historical data collected (years)* | |
| Total | 2384.6 |
| Median (min, max) | 9.4 (2.0, 55.0) |
| Country of enrolment, n (%) | |
| Denmark | 10 (5.4) |
| Germany | 64 (34.4) |
| Sweden | 9 (4.8) |
| Austria | 3 (1.6) |
| Italy | 57 (30.6) |
| Spain | 43 (23.1) |
| Age at time of enrolment (years), n (%) | |
| Mean (SD) | 21.7 (17.3) |
| Median (Q1,Q3) | 14.9 (8.9, 30.8) |
| Min, Max | 5.0, 84.4 |
| Age subgroups at enrolment (years), n (%) | |
| 5–10 | 66 (35.5%) |
| 11–15 | 36 (19.4%) |
| 16–20 | 17 (9.1%) |
| 21–30 | 22 (11.8%) |
| 31–40 | 14 (7.5%) |
| 41–50 | 15 (8.1%) |
| 51–60 | 8 (4.3%) |
| > 60 | 8 (4.3%) |
| Gender, n (%) | |
| Male | 85 (45.7%) |
| Female | 101 (54.3%) |
| Age at diagnosis of achondroplasia (months), n (%) | |
| N | 137 |
| Median (Q1, Q3) | 0.0 (0.0, 6.0) |
| 10th percentile | 0.0 |
| 90th percentile | 35.0 |
| Type of confirmation of diagnosis of achondroplasia, n (%) | |
| Confirmed first by a specialist through medical examination and/or radiological assessment followed by genetic testing | 80 (43.0%) |
| Confirmed by medical examination and/or radiological assessment with no genetic testing | 69 (37.1%) |
| Confirmed first by genetic testing followed by a specialist through medical examination and/or radiological assessment | 28 (15.1%) |
| Confirmed by genetic testing with no confirmation by a specialist through medical examination and radiological assessment | 9 (4.8%) |
| FGFR3 variant**, n (%) | |
| N | 99 |
| c.1138G > A p.Gly380Arg | 78 (78.8%) |
| c.1138G > C p.Gly380Arg | 3 (3.0%) |
| Other*** | 18 (18.2%) |
*Five patients had less than five years of recorded medical history data; however, the study investigator(s) overseeing these patients confirmed that five years of medical data had been reviewed and so confirmed their eligibility for inclusion
**106 patients provided consent for the collection of genetic test information; 102 had the presence of a pathogenic variant in FGFR3 confirmed (data were missing for the remaining 4 patients). Of these, 99 had the specific type of mutation on the FGFR3 gene confirmed (data were missing for the remaining 3 patients)
***15 of these patients had either 1138G > A, 1138G > C or G380R documented, 1 patient had C1620G documented, and test reports were not available for 1 patient. All of these mutations had been coded as during data capture
FGFR3 Fibroblast growth factor 3, max Maximum, min Minimum, Q1 First quartile, Q3 Third quartile, SD Standard deviation