HSCT in un caso di HSCT in un caso di MNGIE: MNGIE: follow up di un anno follow up di un anno Maria Teresa Dotti Maria Teresa Dotti Dipartimento di Scienze Neurologiche, Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento Neurochirurgiche e del Comportamento Università di Siena Università di Siena
This document is posted to help you gain knowledge. Please leave a comment to let me know what you think about it! Share it to your friends and learn new things together.
Transcript
HSCT in un caso di MNGIE:HSCT in un caso di MNGIE:follow up di un annofollow up di un anno
Maria Teresa DottiMaria Teresa Dotti
Dipartimento di Scienze Neurologiche, Neurochirurgiche Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamentoe del Comportamento
Università di SienaUniversità di Siena
Therapeutic approaches for LSDsTherapeutic approaches for LSDs
• The principle : hematopoietic stem cells of the patient are replaced by cells of a donor able to build up sufficient amounts of enzyme to correct the deficient activity and to be clinically efficient
As occurs with many monogenic disorders that can benefit from As occurs with many monogenic disorders that can benefit from anan
allogeneic HSCT, MNGIE is probably a very good candidate forallogeneic HSCT, MNGIE is probably a very good candidate forhematopoietic stem cell gene therapy (HSCGT)hematopoietic stem cell gene therapy (HSCGT)
• …. the delay of mitochondrial DNA replication rate observed when dTTP is in excess is not caused by this excess in itself. Instead, the dTTP overload produces a secondary dCTP depletion that actually delays mitochondrial DNA replication….. This indicates that strategies to provide nucleotides to patients’ mitochondria should be explored as a possible treatment for these fatal disorders
Selezione pazienti per nuove terapie
• Diagnosi precoce cruciale
• Frequenti ritardi, errori diagnostici
• Sforzi speciali per migliorare conoscenze cliniche e algoritmi diagnostici, soprattutto nelle forme late-onset
UO Neurologia e Malattie Neurometaboliche
• A. Federico• F. Sicurelli• A. Carluccio• E. Cardaioli • M. Mondelli
Unità trapianto e Terapia cellulare
• G. Marotta• A. Bucalossi• F. Toraldo• M. Tozzi• M. Lenoci