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Table 1 Summary by disease of number of studies and their design, population and main findings

From: The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review

Disease

Population

Study design

Type of technology

Setting

Parameters assessed

Number of studies

Number of patients

Interventional

With controls

Longitudinal

Accelerometer/gyroscopy

EMG

App/software

Other

Home

Controlled environment

Physical activity

Gait analysis

Upper limb

Tremor

Other

DMD

18

550

2

7

6

17

 

2

 

13

5

10

2

5

 

5

ALS

15

2323

2

4

8

10

2

4

1

8

8

5

1

3

1

7

CMT

6

392

 

2

1

6

   

4

2

4

1

 

1

 

DM

4

142

 

3

 

3

  

1

2

2

1

3

1

 

2

FSHD

4

70

1

1

2

4

 

1

 

2

2

 

3

3

  

MG

2

60

 

1

 

2

   

2

 

2

    

SMA

1

81

  

1

1

   

1

   

1

  

SBMA

1

54

1

 

1

1

   

1

 

1

    

HD

26

738 (+ 98 premani-fest)

3

23

6

23

 

3

 

10

19

8

10

4

 

14

PSP

7

112

1

5

1

7

    

7

 

4

  

3

FD

9

414

1

3

 

7

2

 

4

 

9

  

1

5

3

SCA

9

322 (+ 80 premani-fest)

 

8

1

9

   

2

8

1

6

1

 

4

HSP

3

143

 

1

1

3

    

3

 

3

   

FXS

2

38 (+ 15 premani-fest)

 

2

 

2

    

2

 

2

   

FRDA

2

43

 

2

1

2

 

1

1

1

2

 

1

2

 

1

Sarcoido-sis

5

793

 

1

 

5

   

5

 

5

    

Dermato- myositis

3

79

 

2

 

3

   

3

 

3

    

Scleroder-ma

1

27

 

1

 

1

   

1

 

1

    

PWS

8

143

2

5

2

8

   

5

3

5

3

  

2

Pompe disease

2

54

  

1

1

1

 

1

2

1

1

   

1

MPS

1

8

 

1

 

1

   

1

 

1

    

Fabry

1

17

 

1

 

1

   

1

 

1

    

GM2

1

8

  

1

  

1

1

1

 

1

    

NP-C

2

22

   

2

   

2

 

1

   

1

Rett syndrome

5

150

1

 

1

5

   

4

2

5

    

TSC

1

30

   

1

    

1

1

   

1

Narcolepsy

1

56

   

1

   

1

 

1

    

Number of studies

139

6590

14

73

34

126

5

12

7

72

76

58

39

20

7

43

  1. DMD Duchenne muscular dystrophy, ALS amyotrophic lateral sclerosis, CMT Charcot-Marie-Tooth, DM myotonic dystrophic, FSHD facioscapulohumeral dystrophy, MG myasthenia gravis, SMA spinal muscular atrophy, SBMA spinal and bulbar muscular atrophy, HD huntington disease, PSP progressive supranuclear palsy, FD focal dystonia, SCA spinocerebellar ataxias, HSP hereditary spastic paraplegia, FXS Fragile X Syndrome, FRDA Friedreich’s ataxia, PWS Prader–Willi syndrome, MPS mucopolysaccharidosis, GM2 GM2 gangliosidosis, NP-C Niemann–Pick type C, TSC tuberous sclerosis complex
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172