Depression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A): results from an international digital real-world evidence study Thomas FP�, Attarian S�, Mascaró RS�, Genovese F⁴, Gray A⁵, Bull S�, Tanesse D⁷, Hollett C⁸, Moore A⁸, Boutalbi Y�, Paoli X�, Day L��, Llewellyn S��, Ouyang C��, Larkin M�� 1
Hackensack Meridian School of Medicine, Hackensack University Medical Center, Hackensack, NJ, USA � CHU de Marseille–Hôpital de la Timone, Marseille, France � Hospital Francesc de Borja, Gandia, Spain ⁴ ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV, Bologna, Italy ⁵ Charcot-Marie-Tooth Association, Glenolden, PA, USA � Charcot-Marie-Tooth UK, Christchurch, UK ⁷ CMT-France, Fougères, France ⁸ Hereditary Neuropathy Foundation, New York, NY, USA � Pharnext, Paris, France �� Vitaccess Ltd, Oxford, UK
Introduction
Figure 1: Current CMT1A symptom severity (n=208)
Charcot-Marie-Tooth disease type 1A (CMT1A) is a rare disease belonging to the group of inherited, chronic, progressive motor and sensory neuropathies referred to as Charcot-Marie-Tooth disease (CMT). CMT1A accounts for 60–70% of CMT type 1 patients and for 40–50% of all CMT patients, with an estimated prevalence of 1 in 5,000 people�,�. CMT1A affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss, and progressive limb deformities�.
EuroQol 5-Dimension 5-Level (EQ-5D-5L) instrument anxiety/depression domain scores (n=685) are presented in Figure 3. Sixty-two percent of participants (n=427) reported concerns with anxiety/depression.
Figure 3: EQ-5D-5L anxiety/depression domain scores (n=685)
Objectives The objective of this analysis was to examine patient-reported diagnosis of, and consequences associated with, depression among CMT1A patients in European and US real-world practice.
Methods Adults with CMT1A were recruited to an ongoing international observational study exploring the real-world impact of CMT. Data were collected via CMT&Me, a digital app developed for this study, through which participants were asked questions about burden of disease via patient-reported outcome measures. This interim analysis examined participants from France, Germany, Italy, Spain, the UK, and the USA.
Results Country of residence The country of residence of the 628 respondents to this survey (from a total of n=937 CMT1A participants in the study) is presented in Table 1.
Table 1: Country of residence (n=628)
Forty-three percent of participants diagnosed with depression (n=102/238) reported that they used, or had previously used, antidepressants. Reported diagnosis of depression by country is presented in Figure 2. Reported diagnosis of depression varied considerably by country. Highest rates were among participants in the USA and UK (48% and 40%, respectively – of which 17% (n=17/103) and 38% (n=25/66) reported severe symptom severity, respectively), while lowest rates were among participants in France and Italy (29% and 18%, respectively – of which 53% (n=9/17) and 31% (n=5/16) reported severe symptom severity, respectively).
Conclusions
Figure 2: Proportion of participants who reported a diagnosis of depression by country (n=628)
Over a third of participants reported diagnosis of depression in addition to CMT1A. Highest rates were among participants in the USA and UK, while lowest rates were among participants in France and Italy. The fact that the diagnosis of depression is high in this study population is not surprising for a disease with this symptom burden; however, depression itself as a comorbid condition represents significant disease burden and can affect treatment and outcomes for CMT1A – this warrants further analysis and exploration.
Depression
References 1
Thirty-eight percent of participants (n=238) reported having been diagnosed with depression in addition to CMT1A. CMT1A symptom severity of those who reported depression is presented in Figure 1 (n=208). Of those who reported depression, 54% (n=112) and 35% (n=72) reported moderate or severe CMT1A symptom severity, respectively.
Kedlaya D. Charcot-Marie-Tooth Disease. 2019. https://emedicine.medscape.com/article/1232386-overview [Accessed 26 April 2022]
�Pareyson D et al. Curr Opin Neurol 2017;30(5):471–480 �Reilly MM and Shy ME. J Neurol Neurosurg Psychiatry 2009;80(12):1304–1314