Table 1. Demographics and clinical characteristics of treatment-naive paediatric patients with non-severe Fabry disease. a .
| Parameter | Patients (N = 31) |
|---|---|
| Male sex, n (%) | 31 (100) |
| Median age at Fabry diagnosis (range), years | 10 (0–17) |
| Median age at study enrolment (range), years | 12 (5–18) |
| Patients aged 5–11 years, n (%) | 15 (48) |
| Patients aged 12–18 years, n (%) | 16 (52) |
| White ethnicity, n (%) | 29 (94) |
| Mean heart rate (SD), bpm | 75 (16) |
| Mean systolic blood pressure (SD), mmHg | 111 (14) |
| Mean diastolic blood pressure (SD), mmHg | 61 (9) |
| Family member with Fabry disease, n (%) | 30 (97) |
| αGAL activity, n (%) | |
| Leucocyte αGAL activity < 4.0 nmol/hr/mg b | 24 (77) |
| Plasma αGAL activity < 1.5 nmol/hr/mL | 31 (100) |
| Mean GL-3 (SD) | |
| Plasma, μg/mL c | 9.9 (2.9) |
| Urinary, μg/mmol creatinine d | 600 (400) |
| Mean plasma lyso-GL-3 (range), ng/mL e | 142.0 (3.1–211.5) |
| Abnormal hearing, n (%) | |
| Tinnitus | 4 (13) |
| Hearing loss | 6 (19) |
| GI symptoms, n (%) | |
| Abdominal pain | 20 (65) |
| Diarrhoea | 10 (32) |
| Nausea | 9 (29) |
| Vomiting | 5 (16) |
| Angiokeratomas, n (%) | 15 (48) |
| Concomitant medication, n (%) | |
| ≥ 1 concomitant medication during the study | 19 (61) |
| Pain medications | 14 (45) |
| Medications to manage GI symptoms | 4 (13) |
aBaseline demographics and clinical characteristics reported for the overall group. Baseline demographics and clinical characteristics for each of the treatment groups will be reported once the study has been completed (in the context of the outcomes of the study).
bLeucocyte information not available for 7 patients.
cNormal plasma GL-3: ≤ 7.0 μg/mL.
dNormal urinary GL-3: 1–30 μg/mmol creatinine.
eNormal plasma lyso-GL-3: ≤ 3 ng/mL.
αGAL = α-galactosidase A; bpm = beats per minute; GI = gastrointestinal; GL-3 = globotriaosylceramide; SD = standard deviation.