Tomsen-Melero Judit, Moltó-Abad Marc, Merlo-Mas Josep, Díaz-Riascos Zamira V, Cristóbal-Lecina Edgar, Soldevila Andreu, Altendorfer-Kroath Thomas, Danino Dganit, Ionita Inbal, Pedersen Jan Skov, Snelling Lyndsey, Clay Hazel, Carreño Aida, Corchero José L, Pulido Daniel, Casas Josefina, Veciana Jaume, Sala Santi, Font Albert, Birngruber Thomas, Royo Miriam, Córdoba Alba, Ventosa Nora, Abasolo Ibane, González-Mira Elisabet
Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina, Instituto de Salud Carlos III, Madrid, Spain.
Institut de Ciència de Materials de Barcelona, ICMAB-CSIC, Campus UAB, 08193 Bellaterra, Spain.
Sci Adv. 2024 Dec 13;10(50):eadq4738. doi: 10.1126/sciadv.adq4738.
The central nervous system represents a major target tissue for therapeutic approach of numerous lysosomal storage disorders. Fabry disease arises from the lack or dysfunction of the lysosomal alpha-galactosidase A (GLA) enzyme, resulting in substrate accumulation and multisystemic clinical manifestations. Current enzyme replacement therapies (ERTs) face limited effectiveness due to poor enzyme biodistribution in target tissues and inability to reach the brain. We present an innovative drug delivery strategy centered on a peptide-targeted nanoliposomal formulation, designated as nanoGLA, engineered to selectively deliver a recombinant human GLA (rhGLA) to target tissues. In a Fabry mouse model, nanoGLA demonstrated improved efficacy, inducing a notable reduction in Gb3 deposits in contrast to non-nanoformulated GLA, even in the brain, highlighting the potential of the nanoGLA to address both systemic and cerebrovascular manifestations of Fabry disease. The EMA has granted the Orphan Drug Designation to this product, underscoring the potential clinical superiority of nanoGLA over authorized ERTs and encouraging to advance it toward clinical translation.
中枢神经系统是众多溶酶体贮积症治疗方法的主要靶组织。法布里病是由于溶酶体α-半乳糖苷酶A(GLA)缺乏或功能障碍引起的,导致底物蓄积和多系统临床表现。由于酶在靶组织中的生物分布不佳以及无法到达大脑,目前的酶替代疗法(ERT)效果有限。我们提出了一种创新的药物递送策略,该策略以一种肽靶向纳米脂质体制剂为核心,命名为nanoGLA,其设计目的是将重组人GLA(rhGLA)选择性地递送至靶组织。在法布里病小鼠模型中,nanoGLA显示出更高的疗效,与未纳米化的GLA相比,即使在大脑中也能显著减少Gb3沉积物,突出了nanoGLA解决法布里病全身和脑血管表现的潜力。欧洲药品管理局已授予该产品孤儿药认定,强调了nanoGLA相对于已批准的ERTs潜在的临床优势,并鼓励将其推进到临床转化阶段。