OBJECTIVES:

Hunter syndrome (HS) is a rare, genetic X-linked recessive lysosomal storage disease. Clinical manifestations vary widely in severity and involve multiple organs and tissues; central nervous system (CNS) symptoms are present in approximately two thirds of patients, being associated with poor prognosis and high burden. So we prompt decide to analyze an innovative mechanisms of pre-market authorization access for rare diseases in our country .

METHODS:

In Brazil, although guidelines cover diagnosis, supportive and enzyme replacement treatment (ERT) for HS without CNS manifestations, no specific treatment is available for patients with CNS symptoms. Due to patient organizations engagement, it was possible to provide access for an orphan drug before regulatory approval. Pabinafusp-alfa crosses the blood-brain barrier, overcoming current challenges to treat the neuropathic manifestations of HS and help maintain or improve cognitive function in patients. Currently pabinafusp-alfa is available only in Japan and Brazil; in the latter, it is only available nested to research protocols.

RESULTS:

Studies with pabinafusp-alfa started in Brazil in 2018 (Phase II) as result of direct and organized demand from rare diseases patient associations to drug manufacturer. Despite lack of healthcare authorities’ involvement, up to 2022, 20 patients were treated in Brazil, resulting on estimate savings of USD 13 million for public healthcare system with ERT and providing better patient outcomes .

CONCLUSIONS:

Innovative access alternatives can provide faster access to treatments for patients with unmet needs, especially with orphan diseases. Other alternatives include a) access through clinical studies, with execution/development aligned with healthcare managers and linked with potential future access strategies; b) risk sharing at regulatory level, considering the uncertainties in effectiveness and possibly market withdrawal and/or reimbursement to the system in case of negative results; c) pre-delivery, with subsequent payment only if the results of the clinical study are positive.