05:42am Tuesday 22 October 2019

A personalized treatment with metabolic therapy improves motor skills and communication of a patient with atypical Rett syndrome


A multicenter translational research study has proved the potential of the dietary supplement D-serine to improve the neural function of a patient with a mutation in the glutamate receptors associated to atypical Rett syndrome with severe encephalopathy. The study, led by Xavier Altafaj (Neuropharmacology Unit, IDIBELL) has the participation of groups from the Bellvitge Biomedical Research Institute (IDIBELL), Hospital Sant Joan de Déu (HSJD), the University of Barcelona (UB), Hospital Clínic – IDIBAPS, University of Vic (UVic), Hospital de Santa Creu i Sant Pau and the Rare Diseases Networking Biomedical Research Centre (CIBERER). This collaboration study unfolds a range of therapeutic options for patients with mutations that affect glutamatergic neurotransmission.


“The story started around three years ago, when doctor Àngels Garcia Cazorla, neuropediatrician in Hospital Sant Joan de Déu and lecturer at the UB, contacted us to talk about one of her patients, who had atypical Rett syndrome with severe encephalopathy”, says Xavier Altafaj, who leads the study and is member of the Neuropharmacology Unit (IDIBELL-UB), led by Francisco Ciruela, lecturer at the Faculty of Medicine and Health Sciences and member of the Institute of Neurosciences of the University of Barcelona.
The new study, published in the journal Biological Psychiatry, enabled setting a unique and innovative experimental approach which is currently being transferred to an ambitious project aiming to design predictive algorithms to offer personalized simple and fast clinical treatments for other mutations that affect glutamatergic transmission.

Universitat de Barcelona


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