Mapping the journey of patients and care partners living with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: developing a framework for improvements in care

Aim: To identify and raise awareness of healthcare service gaps for individuals with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Materials & methods: An ALSP patient journey map from symptom onset throughout disease course was developed using existing literature, patient and clinician feedback from a structured workshop and community survey data regarding attitudes toward genetic testing. Results: ALSP diagnosis is frequently delayed due to low awareness of this rare condition and symptom overlap with more common neurological conditions. Multiple factors impact patients' decision-making regarding genetic testing for ALSP, symptom management and participation in research studies. Conclusion: These results highlight the challenges faced by individuals with ALSP and should support program development to improve patient care. PLAIN LANGUAGE SUMMARY Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare and fatal neurological disease. Symptoms generally appear between the ages of 40 and 50 years and worsen rapidly. Many patients have changes in memory, personality, behavior, and movement.A patient journey map shows important events that patients experience over the course of a disease. The map can be used to identify challenges that patients face and where the quality of medical care can be improved. This patient journey map for ALSP is based on published scientific articles, a workshop where patients and others who have experience with ALSP talked about their challenges, and answers to questions from a survey on genetic testing for ALSP.The map shows that diagnosis of ALSP is often delayed. Because ALSP is a rare disease, few medical providers have experience managing it. Medical providers may not suspect it because many ALSP symptoms overlap with symptoms of other common neurologic diseases. Genetic testing is needed to be sure that a person has ALSP, but it can be hard for patients to get tested since it is expensive and there may not be a testing center nearby. Finally, some people might not want to get tested if they are fearful of getting a diagnosis.This patient journey map should be used to raise awareness of ALSP and the challenges faced by patients and those who care for them. It may also help researchers and medical providers know how to better support patients who have ALSP. TWEETABLE ABSTRACT This patient journey map, developed to identify gaps in the care of patients with ALSP, highlights diagnostic challenges and barriers to genetic testing. It should be used to guide future research and advocacy to address challenges and better meet the needs of the ALSP community.