Table 1 Characteristics of patients enrolled in the trial

From: Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial

Patient number

Cohort (volume of infusion per thalamus)

BiT dose

IC or IT dose

Total vector dose

Disease

Sex

Genotype

Age at treatment

001

Starting dose

(180 μl)

1.17 × 1013 vg

1.30 × 1014 vg

1.42 × 1014 vg

Infantile SD

Female

c.923Dup

c.1586T>G

13 months

002

Low dose

(360 μl)

  

1.95 × 1014 vg

Juvenile TSD

Male

c.459+5G>A

c.533G>A

4 years, 8 months

004

 

2.35 × 1013 vg

1.71 × 14 vg

 

Infantile TSD

Female

c.1274_1277Dup

c.1421+1G>C

17 months

005

    

Juvenile TSD

Female

c.2T>C

(homozygous)

6 years, 2 months

006

Mid dose

(720 μl)

  

2.18 × 1014 vg

Juvenile SD

Female

c.778T>C

c.1597C>T

12 years, 1 month

007

 

4.70 × 1013 vg

1.71 × 1014 vg

 

Infantile TSD

Female

c.1123.del

c.956T>G

19 months

008

    

Infantile TSD

Female

c.1307-1308del

c1073+1G>A

11 months

010

High dose

(1,250 μl)

8.14 × 1013 vg

2.74 × 1014 vg

3.56 × 1014 vg

Infantile TSD

Female

c.1274_1277dup

(homozygous)

16 months

011

    

Infantile TSD

Female

c.1258del

c.775A>G

14 months

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