Project 3- Access Study

7. ABSTRACT – PROJECT 3 (TELEHEALTH VS VIRTUAL VISITS IN ORGANIC ACIDEMIAS) In a recent survey from the National Organization for Rare Disorders (NORD), nearly 40% of patients/caregivers with rare disorders reported traveling more than 60 miles for medical care. The same survey also found that 70% of respondents would like the option of telehealth for medical appointments and that during the SARS-CoV-2 pandemic, 88% of those offered a video appointment accepted. Of those accepting a video visit, 92% said it was a positive experience. In addition to the access to care issues, the NORD survey also found that 62% of patients with rare diseases were not able to attend work due to their appointments, and that 26% of children missed school regularly for appointments. Consequently, NORD is strongly advocating robust access to telehealth services for patients with rare diseases. Access to care for rare organic acidemias is an even greater challenge. In a recent survey by the Organic Acidemia Association and Propionic Acidemia Foundation, access to care was a top concern for individuals and families. According to the American Board of Medical Genetics and Genomics website, ten US states have no provider certified in either clinical or medical biochemical genetics demonstrating a significant gap in access to local specialists with expertise in organic acidemias. Although telemedicine has been shown to be effective for genetic counseling and genetic patient evaluations, care for individuals with organic acidemias involves more than counseling and diagnosis. Treatment for organic acidemias is complex requiring a combination of low protein diets, medications/supplements, strict adherence to treatment regimens, and the implementation of sick-day protocols in collaboration with the healthcare team. Frequent monitoring of growth, nutrition, and laboratory values and ongoing education are critical to successfully managing organic acidemias. We hypothesize that telehealth is one strategy for increasing access to high-quality care for organic acidemias. To test this hypothesis, we will perform the first large, multi-center study evaluating the efficacy of telehealth for organic acidemias with the following aims: 1) Assess whether virtual clinic visits are equivalent to in-person visits at achieving treatment goals, 2) Compare attendance at clinic visits and knowledge of treatment regimens for those receiving care at virtual and in-person visits, and 3) Assess patient and parent satisfaction and patient-care team relationships with virtual clinic visits compared to in-person visits. Overall, this multi-center, longitudinal study of virtual vs. in-person medical visits will demonstrate whether virtual visits are effective at providing high quality care for individuals with these disorders. As virtual visits may be a strategy for increasing access to clinical trials and meeting enrollment goals in trials for organic acidemias, the results of this study are important for both clinical trial readiness and improving patient access to quality care.