OBJECTIVES: The study's main goal was to assess both the quality of life and economic outcomes associated with rare diseases within the scope of the Journey of Valued Care for Patients with Rare Diseases (JAV-RARAS) study. JAV-RARAS aims to comprehend and measure the value-based care journey of patients in Brazil by establishing disease records, defining value parameters, and evaluating the cost-effectiveness relationship to optimize resource allocation across different regions of the country.

METHODS: Data were analyzed from patients diagnosed with the following diseases: Osteogenesis Imperfecta (OI), Prader-Willi Syndrome (PWS), Acromegaly (ACRO), Hereditary Angioedema, Mucopolysaccharidosis type II (MPS2), Classical Homocystinuria (HC), Phenylketonuria (PKU), Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF), Familial Amyloidotic Polyneuropathy (FAP), Duchenne Muscular Dystrophy (DM), Gaucher Disease, and Amyotrophic Lateral Sclerosis (ALS).

Quality of life was assessed using the EQ-5D questionnaire, which evaluates health across five dimensions: mobility, personal care, daily activities, pain/discomfort, and anxiety/depression. Costs were determined using Time-Driven Activity-Based Costing (TDABC), a method that, based on Clinical Protocols and Therapeutic Guidelines (PCDT), maps care processes and actual costs.

RESULTS: Initial findings suggest that among the diseases examined, Prader-Willi Syndrome (PWS) has the highest Quality-Adjusted Life Years (QALY) score, while Familial Amyloidotic Polyneuropathy (FAP) has the highest average treatment cost based on the PCDT. When assessed through the Time-Driven Activity-Based Costing (TDABC) method, Spinal Muscular Atrophy (SMA) exhibits the highest average treatment cost. In contrast, Gaucher disease demonstrates the lowest average cost of treatment and the lowest cost per incremental Quality-Adjusted Life Year (QALY). This highlights a more efficient protocol compared to the other diseases under evaluation, positioning Gaucher disease as a reference point for cost-effectiveness.

CONCLUSIONS: The evaluation of treatment protocols conducted by JAV-RARAS allows for ranking the technical allocative efficiency of PCDTs as a policy intervention, through a cost-utility analysis based on the relationship between cost and QALY outcomes.