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Observational Study
. 2022 Sep 1;24(1):7-17.
doi: 10.1097/CND.0000000000000426. Epub 2022 Aug 19.

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study

Florian P Thomas  1 , Mario A Saporta  2 , Shahram Attarian  3 , Teresa Sevilla  4 , Rafael Sivera  5 , Gian M Fabrizi  6 , Filippo Genovese  7 , Amy J Gray  8 , Simon Bull  9 , Daniel Tanesse  10 , Manuel Rego  11 , Allison Moore  12 , Courtney Hollett  12 , Xavier Paoli  13 , Thomas Sénéchal  13 , Laura Day  14 , Chengyu Ouyang  14 , Samuel Llewellyn  14 , Mark Larkin  14 , Youcef Boutalbi  1   7
Affiliations
Observational Study

Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study

Florian P Thomas et al. J Clin Neuromuscul Dis. .

Abstract

Objectives: This study aims to explore the impact of Charcot-Marie-Tooth disease type 1A (CMT1A) and its treatment on patients in European (France, Germany, Italy, Spain, and the United Kingdom) and US real-world practice.

Methods: Adults with CMT1A (n = 937) were recruited to an ongoing observational study exploring the impact of CMT. Data were collected via CMT&Me, an app through which participants completed patient-reported outcome measures.

Results: Symptoms ranked with highest importance were weakness in the extremities, difficulty in walking, and fatigue. Almost half of participants experienced a worsening of symptom severity since diagnosis. Anxiety and depression were each reported by over one-third of participants. Use of rehabilitative interventions, medications, and orthotics/walking aids was high.

Conclusions: Patient-reported burden of CMT1A is high, influenced by difficulties in using limbs, fatigue, pain, and impaired quality of life. Burden severity appears to differ across the population, possibly driven by differences in rehabilitative and prescription-based interventions, and country-specific health care variability.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Mean age at which study participants (n = 937) reported certain milestones.
FIGURE 2.
FIGURE 2.
CMT1A symptom ranked as most important by participants (n = 826).
FIGURE 3.
FIGURE 3.
Proportion of study participants (n = 628) reporting different comorbidities. The remaining n = 198 study participants who responded to this survey question answered “no other medical condition.”
FIGURE 4.
FIGURE 4.
EQ-5D-5L mobility domain scores (n = 686).
FIGURE 5.
FIGURE 5.
PRO instrument scores. (A), QuickDASH score (n = 642), (B) BFI score (n = 592), (C) PROMIS Pain Intensity 3a score (n = 628), (D) PROMIS Pain Interference 6b score (n = 584).
See this image and copyright information in PMC

References

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