Table 2 Outcome measures, Group 1 (age at treatment initiation <16 years).

From: Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

ID

 

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

AGE OF ONSET

AGE AT INITIATION OF TREATMENT

CURRENT AGE

TREATMENT DOSE (mg/kg/d)

23 m

30 m

17 m

15 m

13 m

13 m

13 m

24 m

31 m

36 m

36 m

24 m

24 m

36 m

6 y

27 m

10 y

30 m

2.5 y

15 m

15 m

14 m

33 m

6 y

14 y

12 y

3 y

3 y

7 y

9 y

5 y

13 y

7 y

7 y

21 m

21 m

24 m

3 y

7 y

16 y

13 y

5 y

5 y

9 y

10 y

400

300

400

400

400

400

400

400

400

400

400

400

400

400

400

CK

BASAL

1183

538

148

284

872

940

921

285

626

1789

759

460

945

184

742

0–6 Months

ND

316

ND

ND

649

561

275

133

175

235

243

606

857

164

269

6–12 Months

114

ND

68

132

ND

ND

164

130

165

273

290

173

87

111

195

12–24 Months

55

712

ND

116

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

87

285

ND

61

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

GDF-15 (pg/mL)

BASAL

15000

4608

14756

ND

21641

22767

27066

ND

ND

4797

2641

3686

3841

5006

2781

0–6 Months

1200

762

ND

ND

6628

2174

588

4597

6825

4753

3105

ND

2635

5180

2249

6–12 Months

497

ND

5093

2021

ND

ND

ND

396

369

ND

ND

341

330

440

345

12–24 Months

392

2084

594

255

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

288

631

ND

284

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

FGF-21 (pg/mL)

BASAL

1373

402

3013

ND

4088

3245

7531

ND

ND

809

398

786

471

1057

595

0–6 Months

72

228

ND

ND

1445

776

208

583

743

769

1090

ND

351

1077

417

6–12 Months

31

ND

2170

415

ND

ND

ND

ND

ND

ND

ND

42

<LOQ

<LOQ

34

12–24 Months

30

689

603

51

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

37

134

ND

100

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

BMI

BASAL

<P3

<P3

P3

P1

13,2

13,5

12,7

ND

ND

15,3

20,2

13,5

16

11,5

10,5

0–6 Months

ND

9.6

ND

ND

12,8

13,2

12,9

ND

ND

16,1

19,05

15,02

15,08

11

10,7

6–12 Months

17.2

ND

16.02

12.75

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

12–24 Months

16.3

20

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

14.9

25.3

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

6MWT

BASAL

0

ND

ND

ND

ND

ND

ND

ND

420

75

342

250

272

0

307

0–6 Months

150

ND

ND

ND

ND

ND

ND

ND

531

350

354

ND

ND

ND

364

6–12 Months

250

ND

ND

ND

ND

ND

ND

ND

512

379

375

394

368

15

ND

12–24 Months

391

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

477

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

EK2

BASAL

ND

26

30

28

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

0–6 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

6–12 Months

ND

9

21

14

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

12–24 Months

ND

ND

ND

12

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

13

ND

11

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

NSAA

BASAL

4

ND

ND

ND

ND

ND

ND

20

27

ND

ND

ND

ND

ND

ND

0–6 Months

6

ND

ND

ND

ND

ND

ND

ND

33

ND

ND

ND

ND

ND

ND

6–12 Months

20

ND

ND

ND

ND

ND

ND

31

33

ND

ND

ND

ND

ND

ND

12–24 Months

26

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

HMFS

BASAL

ND

ND

ND

ND

ND

ND

ND

ND

ND

21

35

38

38

17

38

0–6 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

30

33

ND

ND

ND

39

6–12 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

36

37

39

39

23

ND

12–24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

HMFSE

BASAL

ND

ND

ND

ND

ND

ND

ND

ND

ND

26

51

51

53

19

62

0–6 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

48

49

ND

ND

ND

65

6–12 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

57

55

65

65

27

ND

12–24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

CHOP INTEND

BASAL

ND

ND

ND

ND

42

45

17

ND

ND

ND

ND

ND

ND

ND

ND

0–6 Months

ND

ND

ND

ND

45

54

64

ND

ND

ND

ND

ND

ND

ND

ND

6–12 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

12–24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

FVC (%)

BASAL

ND

13

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

38

0–6 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

19

50

ND

ND

ND

66

6–12 Months

ND

22

ND

ND

ND

ND

ND

ND

ND

35

70

ND

ND

71

ND

12–24 Months

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

>24 Months

ND

26

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

  1. CK, creatine kinase; EK, Egen Klassifikation; HMFS, Hammersmith Motor Functional Scale; HMFSE, Hammersmith Motor Functional Scale Expanded; 6MWT, 6-minute walk test; m, months; ND, not determined; NSAA, North Star Ambulatory Assessment; y, years.