Table 1. Baseline Demographic and Clinical Characteristics of 62 Japanese Patients With Tuberous Sclerosis Complex.
| Characteristic | Sirolimus Group (n = 30) |
Placebo Group (n = 32) |
|---|---|---|
| Male sex, No. (%) | 17 (57) | 11 (34) |
| Age, y | ||
| No. (%) | ||
| 6-11 | 6 (20) | 6 (19) |
| 12-18 | 7 (23) | 8 (25) |
| 19-53 | 17 (57) | 18 (56) |
| Mean (SD) | 22 (11) | 23 (13) |
| Height, mean (SD), cm | 157 (15) | 156 (14) |
| Weight, mean (SD), kg | 49 (15) | 54 (17) |
| Assessed skin lesions, No. (%) | ||
| Facial angiofibromas | 30 (100) | 32 (100) |
| Cephalic plaques | 13 (43) | 16 (50) |
| Comorbidities, No. (%) | ||
| Intellectual impairmenta | 14 (47) | 12 (38) |
| Epilepsyb | 21 (70) | 16 (50) |
| Prior use of mTOR inhibitors, No. (%)c | 7 (23) | 11 (34) |
| Major features, No. (%) | ||
| ≥3 Hypomelanotic macules (≥5 mm in diameter) | 17 (57) | 22 (69) |
| ≥3 Angiofibromas or fibrous cephalic plaques | 30 (100) | 32 (100) |
| ≥2 Ungual fibromas | 14 (47) | 12 (38) |
| Shagreen patch | 19 (63) | 20 (63) |
| Multiple retinal hamartomas | 5 (17) | 9 (28) |
| Cortical dysplasias | 16 (53) | 21 (66) |
| Subependymal nodules | 19 (63) | 24 (75) |
| Subependymal giant cell astrocytoma | 4 (13) | 2 (6) |
| Cardiac rhabdomyoma | 3 (10) | 6 (19) |
| Lymphangioleiomyomatosis | 5 (17) | 7 (22) |
| ≥2 Angiomyolipomas | 18 (60) | 16 (50) |
| Minor features, No. (%) | ||
| “Confetti” skin lesions | 1 (3) | 3 (9) |
| ≥3 Dental enamel pits | 11 (37) | 5 (16) |
| ≥2 Intraoral fibromas | 5 (17) | 3 (9) |
| Retinal achromic patch | 2 (7) | 1 (3) |
| Multiple renal cysts | 6 (20) | 5 (16) |
| Nonrenal hamartomas | 5 (17) | 7 (22) |
| DLQI/CDLQI total score,d mean (SD) | 1.8 (3.7) | 1.9 (2.7) |
Abbreviations: CDLQI, Children’s Dermatology Life Quality Index; DLQI, Dermatology Life Quality Index; mTOR, mammalian target of rapamycin.
a
Severe intellectual impairment and autism were included.
b
Febrile convulsions, infantile spasms, seizures, and status epilepticus were included.
c
Everolimus or sirolimus.
d
DLQI for patients 16 years or older; CDLQI for patients younger than 16 years. Both surveys had 10 items rated on a 0-to-3 scale (for a maximum total score of 30), with higher scores implying poorer quality of life.