Author(s)
Thomas FP1, Sivera R2, Gray A3, Moore A4, Rego M5, Genovese F6, Boutalbi Y7, Monteiro K7, Paoli X7, Hall K8, Llewellyn S8, Ouyang C8, Larkin M8
1Hackensack Meridian School of Medicine and Hackensack University Medical Center, Hackensack, NJ, USA, 2Hospital Francesc de Borja, Gandia, Spain, 3Charcot-Marie-Tooth Association, Glenolden, PA, USA, 4Hereditary Neuropathy Foundation, New York, NY, USA, 5Federación Española de Enfermedades Neuromusculares, Barcelona, Spain, 6ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV, Bologna, Italy, 7Pharnext, Issy-les-Moulineaux, France, 8Vitaccess Ltd, Oxford, UK
OBJECTIVES : Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with progressive disability and reduced quality of life (QoL). The objective of this analysis was to examine patient-reported burden of disease and symptom burden of CMT1A in Europe and the US. METHODS : Adults from Germany, Italy, Spain, UK and USA with CMT1A were recruited to a two-year international observational study exploring the real-world impact of the disease. Data were collected via CMT&Me, a digital app developed for this study, through which participants answered questions on demographics and about disease/symptom burden. RESULTS : Forty-seven percent of participants reported that their CMT symptom severity had worsened between diagnosis and now. Participants reporting moderate- to severe symptom severity, vs mild, had significantly (p<0.05) lower mean EQ-5D-5L utility scores (n=240); whereas mean PROMIS pain intensity and interference scores were significantly higher (n=247 and n=227, respectively). Mean EQ-5D-5L utility scores were significantly higher in US vs UK participants. Mean EQ-5D-5L visual analogue scale scores (n=241) were significantly lower in participants reporting severe symptom severity vs mild, but not in those reporting moderate symptom severity. Similarly, mean Work Limitations Questionnaires scores (n=135) were significantly higher in participants reporting severe symptom severity vs mild, but not in those reporting moderate symptom severity. Mean scores were significantly lower as participant age increased. Participants (n=111) were more likely to report missing days from work if they had severe- vs moderate symptom severity. CONCLUSIONS : Patient-reported data confirmed CMT1A is associated with broad burden, including impact to QoL. This was seen in patients with moderate- and severe-symptom severity who had significantly greater QoL impacts and worse health than those with mild-symptom severity. Differences in impacts according to patient age, sex and country were also observed.
Conference/Value in Health Info
2020-11, ISPOR Europe 2020, Milan, Italy
Value in Health, Volume 23, Issue S2 (December 2020)
Code
PRO130
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Rare and Orphan Diseases
