To provide a thorough understanding of the patient and caregiver experience living with Adrenomyeloneuropathy (AMN), the natural history of their disease, cost burden pre- and post-diagnosis, key influencers and decision points that may influence overall patient care, their journey through the healthcare system, and their emotional journey.

AMN, the adult form of ALD, primarily affects the spinal cord and is characterized by weakness and stiffness in the legs. Patients’ journey is fraught with peril, misdiagnoses, and failed treatment – all of which can take an enormous emotional toll on patients/caregivers. We sought to better understand the patient journey with the ultimate goals of shortening time to diagnosis, improving the patient/caregiver experience, and using these insights to help design PROs for clinical trials.

Primary research was performed in two stages with qualitative research interviews (10 patients and 3 caregivers) designed to help drive content for the quantitative survey (40 patients and 8 caregivers). Key topics included: patient journey in the diagnosis and treatment of AMN and key patient needs at various points in the treatment journey; distribution of different patient archetypes; impact of the disease on patients’/caregivers’ lives as disease progresses.

Key findings included: 42% are currently mis-diagnosed with other diseases, 24% of which were mis-diagnosed with MS; high prevalence of spasticity, neuropathies, fatigue and sleeping difficulties; >50% of patients were on oral spasticity medications, OAB oral meds and >40% on corticosteroids; treatment was disjointed between specialists, and the burden lies on the patient/caregiver; Patients can progress through various adaptive devices to assist with their mobility.

Our research highlights the need for improvement in earlier diagnosis, better coordination between specialists, and the need to develop disease-modifying treatments for better patient outcomes.