Table 1 Individual patient demographics and clinical characteristics

Patient identifier	Sex	Age, years	Second CEP290 allele^a	Second CEP290 mutation protein annotation	Dose, µg^b	Total number of doses received / Total cumulative dose over 12 months, µg	Baseline BCVA, logMAR
Patient identifier	Sex	Age, years	Second CEP290 allele^a	Second CEP290 mutation protein annotation	Dose, µg^b		Treated eye	Untreated eye
P1	M	19	c.2506_2507del	p. Glu836Ilefs^a2	160/80	4 / 400	4.0	4.0
P2	M	41	c.4723A>T	p.Lys1575^a	160/80	3 / 320	4.0	4.0
P3	M	44	c.5668G>T	p.Gly1890^a	160/80	3 / 320	2.4	2.3
P4	F	16	c.4438‐3del	NA	160/80	3 / 320	2.5	2.5
P5	M	8	c.6277del	p.Val2093Serfs^a4	160/80	3 / 320	2.1	1.9
P6	F	21	c.3175dup	p.Ile1059Asnfs^a11	320/160	3 / 640	4.0	4.0
P7	F	27	c.4723A>T	p.Lys1575^a	320/160	3 / 640	1.1	0.7
P8	M	10	c.6277del	p.Val2093Serfs^a4	320/160	2 / 480	1.9	1.4
P9	F	24	c.4393C>T	p.Arg1465^a	320/160	1 / 320	4.0	4.0
P10	F	15	c.547_550del	p.Tyr183Argfs^a4	320/160	2 / 480	4.0	4.0
P11	F	14	c.2991+1655A>G	p.Cys998^a	160/80	1 / 160	0.6	0.6

The patient identifiers, variants and protein annotations presented in Table 1 correspond to the ones already reported in Cideciyan et al.²⁵, and any differences reflect only changes in the nomenclature guidelines. The NCBI Reference Sequence identifier used for variant nomenclature is NM_025114. P11 was included in the trial after the 3-month interim analysis.
^aAll patients had c.2991+1655A>G/p.Cys998* allele in common; nucleotide change in the additional allele is shown.
^bLoading/maintenance dose of sepofarsen was injected intravitreally in a 50-μl volume.
^cA logMAR value of +4.0 was used in this trial to represent LP; this value places the category of LP in a roughly equidistant step, going from CF over detection of HM (corresponding to logMAR value of +2.0 and +3.0, respectively).
F, female; M, male.

Quick links

Search