OBJECTIVES: For patients with rare diseases, it can take years to receive an accurate diagnosis and subsequent treatment. In underserved communities, clinical, social, and economic factors may further lengthen these time horizons. The goal of the ASPIRE study was to identify, evaluate, and better understand the barriers to timely diagnosis and treatment among patients with generalized myasthenia gravis (gMG) and neuromyelitis optica spectrum disorder (NMOSD).

METHODS: As part of a landscape assessment for ASPIRE, 10 one hour-long, semi-structured interviews were conducted via telephone or videoconference with representatives from patient advocacy organizations (n=2), policy makers (n=2), payers (n=4), and providers (n=2) from April to June 2022. The interviews aimed to elicit expert knowledge and experience about diagnosing and treating gMG and NMOSD from different perspectives.

RESULTS: Multiple barriers to diagnosis and treatment were identified. Patients reported to patient advocacy organizations barriers that included lack of access to a specialist, inadequate insurance coverage for visits, limited or no access to telemedicine (lack of internet access), and difficulties getting time off work. Policy makers and payers highlighted a lack of priority for rare diseases relative to other diseases, long wait times to access clinical centers of excellence, and lack of adequate insurance. For providers, key challenges included limited clinical knowledge of gMG and NMOSD, a shortage of trained specialists, and implicit gender, racial, and ethnic biases. Improving the referral process, availability of diagnostic algorithms, access to care within underserved communities, education, and policy changes that link reimbursement to equity of care were highlighted as ways to reduce these barriers in treating gMG and NMOSD.

CONCLUSIONS: This study identified multi-dimensional barriers that may prolong the time to diagnosis and treatment for patients with gMG and NMOSD. The contribution of each of these barriers to delaying diagnosis will be further elucidated in future studies.