WonderFIL smiles
@WonderFILsmiles
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A Facial Infiltrating Lipomatosis community. FIL is an ultrarare craniofacial overgrowth condition caused by #PIK3CA mutations. Tweets by @LindaRoeksund
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Joined March 2019
Happy to share the results of the international EPIK P1 clinical trial based on real word data evidence for patients with PIK3CA-related disorders. These data led to the recent @US_FDA approval. Thanks to all coauthors @irvinederm and others not on X. This was an amazing journey
#Alpelisib is well tolerated and clinically effective treatment for many patients with #PROS #PIK3CA #raredisease @Canaudlab @irvinederm
https://t.co/T8dG0Y9ANc
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Today is #LGDAwarenessDay, a day to raise awareness of lymphangiomatosis (complex lymphatic anomalies) and Gorham's disease. To help in these efforts, we are excited to share the final round of data insights from our CLA and PROS research cohort! 1/3
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We are very proud to share our latest work released in @ScienceAdvances. We created a mouse model expressing PIK3CA gain of function mutation specifically in adipose tissue. 1/n https://t.co/BnCwYq847U
science.org
PIK3CA gain-of-function mutation in adipose tissue induces severe endocrine disruption with metabolic anomalies.
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Bullied Because of a Rare Condition, This Dancer Is Now Redefining Beauty. Amazing @_allstripes ambassador story of Andreaโs life: https://t.co/WcEilR2KP6
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Kelsie is an Ambassador for the AllStripes PROS research program in partnership with @CLOVESSyndrome, @WonderFILsmiles and @GoPI3Ks. Check out the AllStripes PROS research program: https://t.co/qDV9xIktKS.
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There is a new PROS survey available on the AllStripes platform. Thank you to @CLOVESSyndrome, @GoPI3Ks and @WonderFILsmiles for their collaboration, and to the PROS community for working alongside us to advance research.
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Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach ๐ #openaccess
link.springer.com
Orphanet Journal of Rare Diseases - PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling...
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๐New publication on our website ๐ Discover the full story of the approval of Alpelisib by the FDA ๐ Teaser: the story started in 2016 in a lab in Paris... ๐๐ฝ https://t.co/8p6pMQ3Xjm
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We're excited to announce a collaboration with @Novartis to study the natural history of PROS (#PIK3CA-related overgrowth spectrum) to understand disease progression. Learn more here: https://t.co/ifzr1II1cO
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FDA has granted accelerated approval to Vijoice (alpelisib) for treatment of PIK3CA-related overgrowth spectrum. Vijoice is a PI3K alpha inhibitor that addresses the underlying genetic cause of PROS symptoms. Novartis release:
novartis.com
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Weโre proud to collaborate with @Novartis to study the natural history of PROS (#PIK3CA-related overgrowth spectrum), with support from @CLOVESSyndrome, @GoPI3Ks & @WonderFILsmiles. Learn more about the initiative here: https://t.co/ifzr1IHtng
#RareDisease #PIK3CA #RealWorldData
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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
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Clinical Response to PI3K-ฮฑ Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders ๐#openaccess
journals.lww.com
m October 2019 through September 2021 followed by the pediatric hematology and multidisciplinary vascular anomalies teams at the Monroe Carell Jr. Childrenโs Hospital at Vanderbilt (MCJCHV). All...
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PIK3CA-related overgrowth: silver bullets from the cancer arsenal? https://t.co/vWKLDVOl25
#PIK3CA #PROS #PIK3CARelatedOvergrowthSpectrum
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On #RareDiseaseDay, Novartis focuses on the importance of raising awareness of rare diseases with others. Listen to the importance of these conversations as told by those affected by PIK3CA-Related Overgrowth Spectrum (PROS) conditions.
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#RareDiseaseDay2022 The PROS Community Working Together https://t.co/bqpR1V5R4C ๐๐ป#PROS #PIK3CARelatedOvergrowthSpectrum
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Super excited to share our latest paper just released in @JExpMed. Two infants (8 and 9 months old) with severe PIK3CA-related disorders treated with low dose of Alpelisib. Outstanding outcomes and first PK data.@morin_gbrl @APHP @hopital_necker @Inserm
https://t.co/CdB5CwqpQX
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Our first meeting is January 27th! Learn more below ๐๐ผ https://t.co/wix1S8xqgF
#PIK3CA #PIK3CARelatedOvergrowthSpectrum #TogetherWeCanMoveMountains #RareAsOne
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As someone living with a rare condition I wanted to help with furthering potential research, to help those in the future born with PROS. Also it gave me the opportunity to see all my medical records together. Check out the @_allstripes PROS program: https://t.co/bqpR1V5R4C
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