The treatment of rare diseases has been a challenge for the Brazilian Unified Health System. In addition to the high costs of treatments, the characteristics inherent to this type of disease bring weaknesses to the scientific evidence of efficacy and safety. The National Committee for Health Technology Incorporation In Brazilian Public Health System (Conitec) is formed by a plenary of experts who monthly assess demands for incorporation into the public health system.

This exploratory, descriptive, and retrospective study aims to gather qualitative and quantitative data on criteria considered by healthcare decision-makers from Conitec and analyzes which rare diseases were benefited by the commission recommendations. Data from June 2012 to November 2022 were collected from the Conitec website to a specific extraction form and analyzed using descriptive statistics.

A total of 763 technologies were evaluated from June 2012 to November 2022, with 158 being drugs for rare diseases. Among these, those with the highest number of diseases benefited were multiple sclerosis 13.3 percent (n=21), cystic fibrosis 6.3 percent (n=10) and pulmonary hypertension 5.7 percent (n=9). About 70 (44.3%) technologies were incorporated into the Unified Health System to treat rare diseases. In these incorporations, 25 technologies initially had an unfavorable recommendation, and only after the public consultation they were recommended for incorporation. Reasons that contributed to this change in recommendation were the new scientific evidence presented (64%), new negotiation of the drug price (28%), and new budgetary impact by revising the calculation of the target population (8%).

The criteria for evaluating technologies for rare diseases are similar to those adopted for other clinical conditions. However, it is important to adopt specific criteria in analysis of drugs targeted at diseases considered rare for the population. Negotiating prices with industry is an important factor that was highlighted, potentially favoring access to new treatments that can modify the progress of these diseases.