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1/ Hey Tweeps: meet Mercan! 7-month baby girl or a close friend. Mercan has spinal muscular atrophy (SMA1)- a muscle wasting disease that was considered incurable— now there is a cure! A one-time gene therapy by @Novartis that was recently @US_FDA approved!
2/ The drug is called #Zolgensma, and it is currently the world’s most expensive drug ever! $2.4 MILLION! https://www.npr.org/sections/health-shots/2019/05/24/725404168/at-2-125-million-new-gene-therapy-is-the-most-expensive-drug-ever.
3/ the family has to come up with the cash asap, before Mercan reaches 24 months, because timing is critical: "Infants dosed with #ZolgenSMA as soon as possible after diagnosis had better results than those who waited to be treated" (from http://curesma.org )
4/ In the US, some commercial insurance and #Medicaid plans have #ZolgenSMA coverage. But... Mercan is not a US citizen! #ZolgenSMA is not yet approved in Mercan's native country, Turkey, but she does not have time to wait for approval. She has to come to US for treatment asap!
5/ #ZolgenSMA halts motor neuron and muscle degeneration by replacing the defective or missing #SMA-causing gene (SMN1). So, her parents are literally running against the clock to come up w/ the $! They started a #GoFundMe- please donate if you can: https://www.gofundme.com/f/mercan-a-can
6/ But- this does not solve the problem- the SYSTEMIC problem (see works by @perterbachmd). There are many other Mercans around the world. There is a cure for their disease, but the drug company, @Novartis, charges an outrageous sum if parents want to use it to save their child!
7/ Is there a hospital in US or elsewhere that offers #ZolgenSMA @ lower cost? PLEASE TELL ME WHERE! but most importantly, #ScienceTweeps, please join me in demanding reduced rates from @Novartis on #ZolgenSMA for little kids without coverage, or with the wrong passport!
8/ @Novartis also has a lottery, where kids around the world - if they win- get treated for free; so for the majority of SMA sufferers without the funds, who gets to live or die is based on this lottery! Perhaps a lottery is better than a "Sophie's Choice" approach, but still...
9/ In this summer of questioning inequalities and healthcare disparities of haves and have nots, we need to ask: why should families like Mercan’s implore strangers for money, instead of taking care of their sick baby? The drug already exists- HOW MUCH DOES IT COST TO PRODUCE IT?
10/ So I researched: "Several US charities, including @SophiasCure, @CureSMA and Miracle for Madison, raised millions of dollars to advance the research..” that led to #ZolGenSMA. Plus, @NIH awarded nearly a HALF BILLION USD in grants to SMA research! https://www.keionline.org/charity-nih-funding-related-to-zolgensma#
11/ Preclinical work leading to @US_FDA approval was done by researchers from @nationwidekids & @ohiostatemed. A lead researcher then became the #CSO of @AveXisInc, the producer of #ZolGenSMA, but was pushed out after a data manipulation scandal: https://www.biospace.com/article/avexis-scientific-founder-out-in-wake-of-zolgensma-scandal/
12/ Senators @BernieSanders & @ewarren urged @US_FDA to hold @AveXisInc accountable “unconscionable that a drug company would provide manipulated data to federal regulators.. to... charge the highest amount in American history for its medication.” https://www.businessinsider.com/novartiss-zolgensma-data-manipulation-gets-scrutiny-from-us-senators-2019-8
13/ So, why is #ZolGenSMA so outrageously expensive? The answer is simply, "why not?", according to @AveXisInc CEO Dave Lennon, in this video. The highlight is at min 9:48, when he coyly responds to "WHAT IS YOUR COST?", with "Good try!" & everyone laughs.
14/ For every child like Mercan, who ‘may’ have a chance, hundreds of others may never collect the $ @Novartis asks for, or collect it too late. My friend, a scientist, is in constant agony- the family is devastated. Will they collect enough $? Will Mercan be alive until then?
15/ On @Novartis side, this year Q2 #ZolGenSMA generated $205 million revenue: https://pharmaphorum.com/news/pandemic-hits-sales-at-novartis-after-strong-launch-for-gene-therapy/ So, @Novartis, how about a discount on the world's most expensive drug?
16/ @Novartis, this is consistent w/ your community statement: “We reaffirm our commitment to creating multiple access pathways so that as many children as possible around the world can benefit from Zolgensma… & sustainable access solutions in low- and middle-income countries.”
17/ & #ScienceTweeps, are we going to be quiet, or are we going to demand lower prices from @Novartis to save Mercan and hundreds of other babies from developing nations who cannot pay these insane prices? Please join me & tell me how we can be their voice! Thank you! 
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/last please help and be the voice of the hundreds of parents in the developing world without a voice, without money, without resources to save their babies! @charlesornstein @zeynep @RVAwonk @ginakolata @carlzimmer @DrSidMukherjee
