OBJECTIVES : The objective of this analysis was to examine self-reported standards of care received by people with Charcot-Marie-Tooth disease (CMT) in UK and US real-world practice.

METHODS : Adults with CMT were recruited to a two-year international observational study exploring the real-world impact of the disease. Data were collected via CMT&Me, a ‘bring your own device’ app specifically developed for this study, through which participants were asked questions about demographic, CMT-management-related and quality-of-life variables. This interim analysis examined standards of CMT management reported by UK and US participants, including promptness of diagnosis and access to appropriate healthcare professionals. Outcomes were compared against clinical guidelines.

RESULTS : Diagnosis and care standards were generally aligned with guidelines. Around half of study participants received their CMT diagnosis within a year of first seeking medical care; however, substantial minorities reported experiencing diagnostic delays of several years and/or did not know their CMT subtype at the time of study participation.

The majority of participants had at least yearly access to several members of a multidisciplinary care team, including family doctors, neurologists, physical/physiotherapists, orthotists, and occupational therapists, among others. However, the type and number of healthcare professionals visited varied considerably between participants. Most people visited a neurologist – the professional recommended to coordinate CMT care­ – at least once a year; however, a sizable minority did not. A physical/physiotherapist, another important professional with the CMT care team, was seen at least annually by only around half of participants. The majority of people visited their family doctor at least once a year for problems with their CMT.

CONCLUSIONS : CMT care standards in the UK and US are broadly in alignment with guidelines; however, there is scope to improve time-to-diagnosis and access to appropriate healthcare professionals. This ongoing registry will provide further real-world insights into areas for the development of CMT care.