Advanced Therapy Medicinal Products' Translation in Europe: A Developers' Perspective

Advanced Therapy Medicinal Products (ATMPs) comprising cell, gene, and tissue-engineered therapies have demonstrated enormous therapeutic benefits. However, their development is complex to be managed efficiently within currently existing regulatory frameworks. Legislation and regulation requirements for ATMPs must strike a balance between the patient safety while promoting innovations to optimize exploitation of these novel therapeutics. This paradox highlights the importance of on-going dynamic dialogue between all stakeholders and regulatory science to facilitate the development of pragmatic ATMP regulatory guidelines

Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation

We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms.Nós caracterizamos a base molecular da talassemia b em uma paciente negra brasileira, de 8 anos de idade, com um quadro clínico extremamente benigno de S-b+ talassemia. A paciente tinha uma hemoglobina total de 10,1 g/dl, com 57% de HbS. O sequenciamento direto do DNA, amplificado por PCR, revelou que a paciente é heterozigota da mutação b+ IVS-I-6 (T®C). Esta mutação, algumas vezes referida como o tipo português de talassemia, foi encontrada em associação com o polimorfismo C®T no codon 2 do gene b e, de nosso conhecimento, não havia sido previamente descrita na população negra brasileira.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq