Table 3.

Consensus of measures suitable to assess childhood PMM Patients in clinical studies.

Clinician-reported outcome measures: Clinical scales to

Newcastle Pediatric Mitochondrial Disease scale (NPMDS)

International Pediatric Mitochondrial Diseases Scale (IPMDS)

Quantitative Myasthenia Gravis test (QMG)?

Gross Motor Function Measure (GMFM)

PedsQL

Pediatric Evaluation of Disability Inventory (PEDI-CAT)

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Hammersmith Functional Motor Scale, Expanded

Childhood Myositis Assessment Scale

Functional tests

6M-WT

Timed Up and Go (x 3)

Five times Sit-To-Stand test

Test of masticating and swallowing solids (TOMASS)

Timed water swallow

Performance outcome measures

Exercise physiology testing (above 14-years of age)

Systemic arterio-venous oxygen difference (calculated from measurement of cardiac output and rate of oxygen utilization during incremental exercise)

6MWT with cardiorespiratory monitoring?

Standardized lactate pre- post-exercise

Dynamometer

30 Second Sit-To-Stand

Nine Hole Peg Test

Functional Muscle Test

6 Minutes Mastication Test (Pilot)

GAITRite

Activity meters (including sleep monitoring)

Spirometry

SNIP

Patient-reported outcome measures Measurements of patient function or feeling

NPMDS/NPMDS Section IV

Quality of Life: PROMIS

Quality of Life: WHOQOL

PedsQL (Pediatric quality of life inventory)

Fatigue scale: CIS

Fatigue scale: FSS

Fatigue scale: MFI

Patients’ Global Impression of Change

Biomarkers

GDF15

FGF21

Basal venous blood lactate and pyruvate

Resting blood CK

Metabolomic studies (including AA, urine OA, acyl-carnitine profiles)

31P MRS of muscle at baseline - then during exercise (pedal depressing) – and then during recovery