Table 1 Baseline demographics and clinical characteristics

From: Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results

 

Cohort 1

Cohort 2

Patient 1

Patient 2

Patient 3

Totala (n = 3)

Patient 4

Patient 5

Patient 6

Totala (n = 3)

Age, years

13

4

13

10.0 (5.2)

11

11

8

10.0 (1.7)

Sexb

Female

Male

Female

NA

Male

Male

Female

NA

Height, cm

155

103

157.5

138.5 (30.8)

132

144

129.2

135.1 (7.9)

Weight, kg

56.2

17.7

53.1

42.3 (21.4)

29.4

39.5

27.3

32.1 (6.5)

BMI, kg m−2

23.4

16.7

21.4

20.5 (3.4)

16.9

19

16.4

17.4 (1.4)

SGCB mutationc

Exon 3 c.341C>T; p.Ser114Phe Missense

Exon 4 c.452C>G; p.Thr151Arg Missense

Exon 3 c.341C>T; p.Ser114Phe Missense

NA

Exon 4 c.452C>G; p.Thr151Arg Missense

Exon 3 c.341C>T; p.Ser114Phe Missense

Exon 1 c.1_2delAT Deletion

NA

CKd, U l−1

10,727

28,014

10,985

16,575.3 (9907.0)

6,447

8,938

5,743

7,042.7 (1678.7)

Functional measures

        

NSAD score

40

48

41

43.0 (4.4)

41

37

40

39.3 (2.1)

Time to rise, s

5

1.5

3.5

3.3 (1.8)

3.3

3.5

5.7

4.2 (1.3)

Four-stair climb, s

2.4

1.6

2.8

2.3 (0.6)

3

3.1

3.1

3.1 (0.1)

100-m, s

52

35.1

48.8

45.3 (9.0)

47.2

59.7

65.3

57.4 (9.3)

10-m, s

5

3.4

5.2

4.5 (1.0)

4.9

5.8

6.1

5.6 (0.6)

  1. 10-m, 10-m timed test; 100-m, 100-m timed test; BMI calculated as weight in kg divided by height in m2; NA, not applicable.
  2. aData expressed as mean (s.d.).
  3. bSex reported was determined based on self-report.
  4. cPatients 1–5 had missense mutations; Patient 6 had a nonsense mutation; all mutations were homozygous.
  5. dBaseline CK level defined as the maximum value of screening and Day −1 measurements; SI conversion factor: for conversion of U l−1 to μkat l−1, multiply by 0.0167.
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