17/02/2026
The Brazilian Cystic Fibrosis Study Group produced a Technical Position Statement with the aim of providing evidence-based support for judicial decisions and for Technical Notes issued by the Judiciary Technical Assistance Center (NATJUS), in light of the complexity of the topic involving coverage of modulator therapy (such as Trikafta®) for patients with mutations that are not explicitly listed in the drug label. In this context, we have identified divergences in some Technical Notes regarding the interpretation of the circumstances under which a “rare mutation” is or is not covered, based exclusively on in vitro evidence or realworld studies. We therefore aim to add knowledge and contribute to decision-making supported by scientific evidence.
Trikafta® already has a robust international regulatory basis for the treatment of cystic fibrosis in individuals carrying the F508del variant and, increasingly, for hundreds of non-F508del variants with evidence of response to therapy (in vitro or clinical). In Brazil, the recent ANVISA label update includes younger individuals (from two years of age) and rare variants with evidence of functional response. However, it still does not include ultra-rare variants with evidence of response from functional or clinical studies, which we consider a critical issue when dealing with ultra-rare conditions, favoring broader access approaches such as those adopted by the European agency and the United Kingdom.
GBEFC specialists align with the perspective of the European agency and the United Kingdom: for a severe, progressive, and debilitating disease such as CF, expanding access with careful monitoring of treatment response has scientific and clinical justification, is essential, and should be viewed as an undeniable right to health for Brazilian individuals with CF.
The current CF care landscape in Brazil is well organized, with most patients monitored in Specialized CF Reference Centers. GBEFC has played a pioneering role in the continuous generation of knowledge on CF diagnosis and treatment in Brazil through the REBRAFC and stands ready to support the Ministry of Health in managing access for rare off-label cases by providing objective outcome data, reducing burden, and offering technical support to decisions within the Brazilian judicial system.
> Download full TECHNICAL POSITION STATEMENT.
17/02/2026