Highlights do World Symposium 2024: O que há de novo

Referências

1. Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I. Roberto Giugliani, Paul Harmatz, Ana Maria Martins, Takashi Hamazaki, Ryutaro Kira, Toru Kubo, Yuji Sato, Hiroaki Moriuchi, Satoshi Kawashima, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Mathias Schmidt. Disponível em: doi:10.1016/j.ymgme.2023.107852 

2. First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up Raymond Y. Wang, Nina Movsesyan, Shih-hsin Kaa, Tammam Beydoun, Mery Taylor, Richard C. Chang, Dawn Phillips, Jenna Burke, Michelle Gilmor, Yoonjin Cho, Paulo Falabella, Laura Pisani. Disponível em: doi:10.1016/j.ymgme.2023.108070 

3. Baseline levels of neurofilament light chain in the cerebrospinal fluid correlate with clinical outcomes in patients with MPS II from a phase 2/3 clinical trial (NCT02055118) and extension study (NCT02412787) of intrathecal idursulfase. Christian Argueta, Mariam Ahmed, Oeystein R. Brekk, Scott McDonnell, Luying Pan, Tatiana Plavina, David Whiteman. Disponível em: doi:10.1016/j.ymgme.2023.107752 

4. Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses. Michael H. Gelba, Zackary M. Herbsta, Maria Fullerb. Disponível em: doi:10.1016/j.ymgme.2023.107836 

5. Haploinsufficiency of lysosomal enzymes and Alzheimer’s disease, Mark Sands, Washington University School of Medicine, St Louis, Missouri, USA. Presented in “Late-Breaking Science” Session at World Symposium 2024.