Table 1.
Age, y | Diagnosis | Stage | MECP2 mutation | Concomitant medications | Breathing phenotype |
3 | Classic | II | R168X | None | None |
7 | MRD* | n/a† | C1135_1142 del | None | None |
7 | MRD* | n/a† | C1135_1142 del | None | None |
2 | Classic | II | C790_808 del | Levetiracetam | BH, HV, AE |
5 | Classic | III | Large del exon 3 and 4 | None | BH, HV |
4 | Classic | III | C1159_1273 del | None | AE‡ |
8 | Classic | III | R255X | Lamotrigine, lorazepam, melatonin | BH, AE§ |
4 | Classic | III | R255X | None | AE |
8 | Classic | III | T158M | None | BH, AE§ |
3 | MRD | n/a† | R306C | None | None |
10 | Classic | III | Large del exon 1 and 2 | Gabapentin, diastat | BH, AE, cyanosis§ |
8 | Classic | III | P322L | Levetiracetam | BH, AE, cyanosis§ |
AE, air expulsion; BH, breath holding; HV, hyperventilation.
Subjects did not continue in OLE.
Staging not applicable (n/a) to non-RTT.
Subject with mild apnea (apneic episodes >10 s and <5 apneas per hour).
Subjects with moderate–severe apnea (apneic episodes >10 s and >5 apneas per hour).