Mercè Pineda Marfa

Mercè Pineda Marfa

Mercè Pineda Marfa
Cargo

Paediatric neurologist at the Hospital Sant Joan de Déu and the Centro Médico Teknon

Topics

Reactions: gene therapy improves Hurler syndrome skeletal disorders

Hurler syndrome is a rare and very serious disease caused by an enzyme deficiency, which results in a wide variety of signs and symptoms. Treatment with bone marrow transplantation helps to alleviate some of them, but has little effect on skeletal disorders. Now, a phase I/II trial has tested an autologous transplant of blood stem cells corrected by gene therapy in eight patients. The results, published in the journal Science Translational Medicine, suggest that the treatment is more effective and could also improve these types of disorders. 

0