Problem Statement: The Brazilian Health Technology Assessment (HTA) agency−Conitec, since 2012 provides recommendations for local Universal Healthcare System (SUS). Reimbursement of rare diseases technologies is challenging due to uncertainties in scientific evidence, high treatment cost and lack of specific rare diseases HTA guidance. In this context, real word evidence (RWE) might be an important source to add information to HTA process. We aim to describe an experience of RWE used in recent Brazilian HTA submission for Fabry disease and Hereditary angioedema (HAE).

Description: Patient registries yield RWE and increase the understanding of treatments and disease in large populations. In rare diseases, when compared to randomized controlled trials (RCT), RWE allows longer follow-up periods and inclusion of populations in different settings and characteristics. Fabry Outcome Survey (FOS) and Icatibant Outcome Survey (IOS) are diseases registries sponsored by Takeda that collect information on patients with Fabry (using agalsidase-alfa) and HAE (using Icatibant), respectively.

FOS was initiated in April 2001 and concluded in September 2022 with 4,480 patients enrolled from 109 centers across Brazil and 23 other countries. The registry aimed to follow renal function, cardiovascular and neurological effects, pain and QoL.

IOS was initiated in July 2009, in March 2019, 1,052 patients have been enrolled from Brazil and 12 other countries, and assessed outcomes of attack-related frequency, severity, and clinically significant relief of symptoms for Icatibant.

Agalsidase-alfa and Icatibant were rejected by Conitec in 2020 and 2015, respectively. The new submissions (2022) did not include novel RCT data, thus including FOS and IOS data, the clinical dossier added long-term effectiveness and safety data. Agalsidase-alfa was recently incorporated by Conitec-SUS and Icatibant HTA-process is ongoing.

Lessons Learned: RWE published using patient registry with local data added value on the long-term effectiveness and safety that is important for HTA decision making.

Stakeholder perspective: Industry