Therapeutic advances in rare disease

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study.

Pub Date : 2025-09-18 DOI: 10.1177/26330040251362885 Perry B Shieh, Wendy Hughes, Marie Wood, Alan H Beggs, Michael W Lawlor, Julie Coats, Fatbardha Varfaj, Robert J Graham, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Ana Buj Bello, Laurent Servais, Vicky MacBean, Francesco Muntoni, A Reghan Foley, Astrid Blaschek, Emma S James, Andreea Seferian, Lindsay N Alfano, Tina Duong, Mojtaba Noursalehi, Weston Miller, Jun Lee, Suyash Prasad, Salvador Rico

Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification.

Pub Date : 2025-09-11 DOI: 10.1177/26330040251375498 Haylen Marín Gómez, Miguel López-Garrido

Addressing rare diseases and access to surgical care in Brazil: a call to action.

Pub Date : 2025-08-29 DOI: 10.1177/26330040251369887 Ayla Gerk, Letícia Nunes Campos, Luiza Telles, Sarah Lopes Salomão, Ana Woo Sook Kim, Beatriz Laus Pereira Lima, Sofia Wagemaker Viana, Melissa Zattoni Antonelli, Michelle Brandão, Igor Cunha, Natalia Jereissati, Cristiano Tonello, John G Meara, Nivaldo Alonso