Top Tweets for #mpsvi
Today is the last #Naglazyme infusion of 2024. These weekly infusions have been occurring for over 20+ years. I’m so lucky that researchers took the time to work for a treatment for Type VI. Feeling grateful.
#MPSVI #RareDisease #Disability #CareAboutRare
Lía Romina García Cardona, es una paciente con #MPSVI que tiene 2 años y vive en #Aguascalientes con su familia.
Lía necesita una operación en sus manos para tener una mejor calidad de vida, su hospital solicita donadores de sangre de cualquier tipo.
¡Ayuda a Lía, dona sangre!
Thank you, @isaacfoundation and Ellen Buck-McFadyen for allowing me to be an honorary Canadian all these years! I can only hope @RareByDesign will be as impactful as #TheIsaacFoundation has been!
Happy #RareDiseaseDay!
#RareDisease #CareAboutRare #MPSVI
https://t.co/4S34Hhho29
Thank you #BioMarin for all you do for all your patients! I am so incredibly grateful for your whole team!
#RareDisease #MPSVI #MakeLemonade #InclusionIsAlwaysIn #RareByDesign #CareAboutRare #DisabilityAwareness
https://t.co/plbB7YZJBl
Two #AAV mediated liver directed #GeneTherapy #clinicaltrials
Prof. Nicola Brunetti-Pierri is presenting now at #ConventionTelethon an update on two ongoing clinical studies testing new therapeutic strategies for #MetabolicDiseases
#MPSVI
#CriglerNajjar syndrome
New #openaccess content in #JIMDReports
Visual impairment in mucopolysaccharidosis VI
Augusto Monteiro Magalhães, et al
https://t.co/DoQVG0Jeoy
#MPS #MPSVI
📢Las modificaciones administrativas del #NuevoGobiernoHidalgo
impactan la salud de Karina Fernanda, paciente #MPSVI, #EnfermedadRara cuyo único tratamiento fue suspendido 6 meses atrás.
Se debe priorizar el #DerechoalaSalud en todo #México.
Lee la nota en @LaCronicadeHoy 👇
Una víctima indirecta en el cambio de administración del gobierno del estado de Hidalgo, fue la pequeña Karina Fernanda, quien a sus 13 años de edad y con una enfermedad rara tuvo que interrumpir su tratamiento por falta de medicamentos.
https://t.co/j1tovyUYjw
Gracias @Quadratin_Hgo por ayudarnos a visibilizar el caso de Karina con #MPSVI, #enfermedadRara que necesita #Tratamiento de Reemplazo Enzimático.
¡AYUDANOS CON UN #RETWEET!
Esperamos repuestas de @gobiernohidalgo @difhgo @omarfayad @juliomenchaca_ @Salud_Hidalgo @CDHEHidalgo
🚷🏥 #AsíLasCosas
#EntérateEnQuadratín
🔴👉 Niegan en hospital del Niño DIF terapia a menor con rara enfermedad
Aquí la información --> https://t.co/sTFMYJVjCY
Great talk by Nicola @brunetti_pierri from @Tigem_Telethon during @ESGCT 2022 pleanary session on clinical trials presenting results from phase I/II study on liver-directed gene therapy for mucopolysaccharidosis type VI #GeneTherapy #AAV #MPSVI
“Liver-Directed AAV-Mediated Gene Therapy for Mucopolysaccharidosis Type VI,” by Nicola Brunetti-Pierri, MD, et al. A three-center, open-label, dose-escalation phase 1/2 study to investigate the safety/efficacy of #GeneTherapy in pts with #MPSVI. https://t.co/cxtYjwnzEW
#MedEd
Liver-directed gene therapy in #MPSVI participants did not have a dose limiting side-effect and adverse profile; high-dose treatment resulted in ARSB expression over at least 24 months with preliminary evidence of disease stabilization. https://t.co/cxtYjwnzEW
#GeneTherapy
For our recent publication in @NEJMEvidence on the #genetherapy #clinicaltrial to treat #MPSVI, @Telethonitalia interviewed Alba, who received this novel #therapy.
“I want to thank all those who made all this possible!" -Alba, 7
Read the article (🇮🇹) here:
https://t.co/T8M0h6jBVK
📰Learn more about the recent publication on #MPSVI from Nicola @brunetti_pierri and #AlbertoAuricchio from this @Telethonitalia article, who both discussed the #impact of this #genetherapy #clinical trial and what it means for patients and their families.
https://t.co/o6n4omL08H
Adenovirus based #GeneTherapy was given to 9 pts with an inherited loss of arylsulfatase B function. There were no severe clinical adverse events. In the highest-dose group, there was modest evidence of sustained enzyme restoration. https://t.co/cxtYjwnzEW
#MPSVI #MedTwitter
Do you like #specialneedscats? Then you're going to love Dumpling from @bubba_dumpling, a #siamesecat who was born with #MPSVI, a type of #mucopolysaccharidosis that causes affected #cats to have flat faces, poor hind limb mobility, and stunted growth. https://t.co/7h0JGP8qEL
#RareDiseaseDay #AlbertoAuricchio
Mucopolysaccharidosis VI #MPSVI, caused by deficient arylsulfatase B activity, results in lysosomal storage of glycosaminoglycans & is characterized by dysostosis multiplex, organomegaly, corneal clouding, and heart valve thickening.
We are looking forward to hearing from our new staff scientist, Dr. Francyne Kubaski, at the #WORLDSymposia today in San Diego. She will be sharing how her research could allow for prenatal diagnosis for Mucopolysaccharidosis VI. #MPSVI #RareDiseases
Oral Treatment for Mucopolysaccharidosis VI: Outcomes of the First Phase IIa Study with Odiparcil
Nathalie Guffon, et al
https://t.co/W5UAuU7u7J
#mucopolysaccharidosis #MPSVI @MPSSociety @MPSpapas
Rare Classroom: Maroteaux-Lamy Syndrome https://t.co/7u2eGA3pvh #maroteauxlamysyndrome #MPS #MPSVI #rareclassroom #mucopolysaccharidosis @MPSSociety
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