Niemann-Pick Canada

Niemann-Pick Canada is a registered charity in Canada with a mission to cure Niemann-Pick diseases through the funding of promising research.

[Niemann-Pick Canada @NP_Canada]

Do you have or are suspected of having acid sphingomyelinase deficiency (ASMD)? If so, connect with our community.

#ASMD #NPD #niemannpick #NiemannPickDisease #niemannpicktypea #NiemannPicktypeB

[Niemann-Pick Canada @NP_Canada]

It's Global Niemann-Pick Disease Awareness Day! Niemann-Pick Canada is a member of the International Niemann-Pick Disease Alliance which consolidates our voices in support and awareness of the NP Community globally. #niemannpickcanada #ASMD #NPC

[Niemann-Pick Canada @NP_Canada]

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin.

https://t.co/3zFxbgbPab

[SickKids Foundation @sickkids]

Today on the #SickKidsVS Podcast: 5-year-old Michael is one of less than 100 people in the world with #SPG50, an ultrarare genetic disease. In 2022, a SickKids team dosed Michael with the first-ever #genetherapy in an unprecedented #clinicaltrial. Listen: https://t.co/llCSivPZnP

[Ronald D. Cohn @ronald_cohn]

Michael's story is an incredible example of the impact #PrecisionChildHealth can have for a family. His trial is a crucial proof-of-concept for making truly individualized medicine a reality for every @SickKidsNews patient. #SKResearch

[The Hospital for Sick Children (SickKids) @SickKidsNews]

A SickKids team conducted a single-patient #GeneTherapy #ClinicalTrial for Michael Pirovolakis’ ultra-rare disease, #SPG50. Michael and his #SKResearch team are carving a path for #PrecisionChildHealth – individualized care for every patient. Read more: https://t.co/3WopOIuMHP

[AllStripes @_allstripes]

AllStripes is partnering with the @Firefly_Fund, the @nnpdf, @NP_Canada and Ara Parseghian Medical Research Fund to create a research database that will power multiple NPC research studies.

[AllStripes @_allstripes]

@Firefly_Fund @nnpdf @NP_Canada The first research project will focus on if early diagnosis and intervention result in better outcomes and quality of life for patients with NPC. Learn more: https://t.co/8JDNwTtBrC

[The Hospital for Sick Children (SickKids) @SickKidsNews]

SickKids is thrilled to once again be named one of the World's Best Hospitals - Top Specialized by @Newsweek!

What makes us top-notch is our dedicated and skilled staff. Join our incredible team: https://t.co/pPvQ8WK7J6

[The Hospital for Sick Children (SickKids) @SickKidsNews]

#SKResearch is cracking the genetic code. A new study in @NatureBiotech features a novel #CRISPR #genomeediting strategy that helps classify whether #geneticvariants are benign or disease-causing. https://t.co/xg4uqVck7C #PrecisionChildHealth

[The Hospital for Sick Children (SickKids) @SickKidsNews]

Congratulations to Drs. @Ji_young_Youn, Jeehye Park & Hoon-Ki Sung who have received Discovery Grants from @ALSCanada and @BrainCanada to support their laboratory research projects and contribute to advancing #ALS research. #SKResearch

[Niemann-Pick Canada @NP_Canada]

Thank you @SickKidsNews for your dedication to the INPDR and your commitment to children afflicted with Niemann-Pick disease!!

[International Niemann-Pick Disease Registry @inpdr_registry]

As we head into a New Year we thank all clinicians and teams worldwide for their dedication to INPDR, with special commendation to @sickkids Canada for not only enrolling and following up patients but for adding the valuable retrospective data to the history of each patient!

[International Niemann-Pick Disease Registry @inpdr_registry]

As we head into a New Year we thank all clinicians and teams worldwide for their dedication to INPDR, with special commendation to @sickkids Canada for not only enrolling and following up patients but for adding the valuable retrospective data to the history of each patient!

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

The first of the papers discussed is: Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C. Patterson, et al
https://t.co/nA9rLEfmUw

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

@Firefly_Fund @NiemannPickUK @NiemannPickOz @nnpdf @inpda_org @ColognaLab @niemannpickrf @NP_Canada @bpamandrews Marc gives you a shout out so thought you’d appreciate.

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Have you listened to our latest podcast looking at treatment challenges in #NPC including Arimoclomal & Miglustat & the challenges of screening and drug regulation? @niemannpickuk
@niemannpickoz
@nnpdf
@inpda_org
@colognalab
@niemannpickrf
@NP_canada
@firefly_fund
@bpamandrews

[NNPDF @nnpdf]

Intrabio has shared a report on IB1001. Read more at https://t.co/49J0EdR0ko

[NNPDF @nnpdf]

INPDA recently held its Biennial meeting to discuss its goals and plans for the coming year. Council members were energized by the connections to one another and the shared commitment to advancing knowledge and treatment of Niemann-Pick diseases.
#INPDA #NiemannPick

[NNPDF @nnpdf]

Orphazyme has announced the publication of its results from the Phase 2/3 trial of arimoclomol in Niemann-Pick disease type C in the Journal of Inherited Metabolic Disease. Read complete announcement at https://t.co/nZZtcnR9CT