Development of a validated quality of life outcome measure in pediatric Charcot-Marie-Tooth disease

Takeaway

  • The pediatric Charcot-Marie-Tooth Disease health-related Quality of Life (pCMT-QOL) patient-reported outcome measure is a reliable, valid, and sensitive measure of health-related QOL for children with CMT.

Why this matters

    Health-related QOL is significantly reduced in children with CMT. Generic QOL outcome measures are unsuitable for trials in pediatric CMT as they lack sensitivity and specificity to disease-related changes; as such, there is an urgent need to develop validated outcome measures for such studies.