Sam Falsetti

Drug development/ commercialization. Focused on #rarediseases, especially diagnosis/ access to care. Husband/ Father/ Pug owner/ PhD.

[Sam Falsetti @DrFalsetti]

@maiden_of_spear That take was always way out of bounds. To say she was not accurate to the book description for age or costuming is one thing but she def fits the part she was chosen for

[Sam Falsetti @DrFalsetti]

@Bain_Chiad Well that is not quite how I pictured Aludra…

[Rick Berke @rickberke]

So sad, and some say unnecessary: Covid-19 keeps families and caregivers out of hospitals. One woman tells @claulopezneuro of her husband, "I’m just praying that when they take him upstairs, I’m able to go up here and visit him for a while.”
https://t.co/BeEEhlIFxC via @statnews

[Wayne Eskridge @WayneEskridge1]

.@CDCgov to consider third #COVID19 #vaccine shot for immunocompromised individuals.

Since many of us are immunocompromised this question of whether we need additional support is a critical question: https://t.co/cvCrpmxSn7 via @WebMD

[Antonei B Csoka, PhD @abcsoka]

https://t.co/NlkGd7USow the 'Borg': Massive DNA Structures Perplex Scientists via @sciam

[Stephanie Fischer @RarePOV]

Dr. Austin of @ncats_nih_gov notes technologies during pandemic have led to "rapid & inclusive recruitment & retention in #clinicaltrials because we reduced the burden on patients, especially #raredisease patients that are already dealing with all kinds of issues" #FDARare2021

[Sam Falsetti @DrFalsetti]

Is the approval and potential budget impact of #aducanumab the straw that breaks #medicare forcing drug price negotiation legislation? Lots on the line for future therapeutics in orphan diseases of legislation does not protect vulnerable populations dependent on high cost meds

[Dave Portnoy @stoolpresidente]

Pats by a billion

[Jeff Flake @JeffFlake]

In 2016, nine months before an election, we Republicans said that the next president should fill a Supreme Court vacancy. Today, six weeks before an election, we should hold the same position. Preserving the institution of the Senate should be paramount to any political gain.

[Sam Falsetti @DrFalsetti]

Move by #DHHS sec Azar to allow for preemption of #FDA is destructive to public health policy and public trust in FDA approvals. If used for #CoronaVaccine this will lead to premature approvals and lower #vaccine utilization. Walk it back

[Andy Biotech @AndyBiotech]

NEJM article today on how New Zealand managed to crush the curve and successfully eliminated #COVID19
https://t.co/s7AKwm1nGg

Lessons for the rest of the world!

[Global Genes @GlobalGenes]

Now we are entering an era of consolidation and scale of N of 1. I am excited by this decade of what I think will be cures. - @eperlste, @PerlaraPBC #2020RDDS

[Perlara @PerlaraPBC]

🚨📬 Rare Pediatric Disease Designation granted by @US_FDA for epalrestat for the treatment of #PMM2-#CDG!

This means epalrestat would be eligible for a Priority Review Voucher/PRV if approved.

The n-of-1 epalrestat trial is approaching the 90-day mark.

More updates soon.

[Holly Carmichael @CarmichaelHolly]

She still has big hopes and dreams – she wants to be a doctor (like Dr. @emoravakozicz) and a ballerina. We hope that she will be able to do those things but also have acceptance that it may be a difficult path or may not happen at all.

[Holly Carmichael @CarmichaelHolly]

I have to accept there are some things we may not be able to do for Maggie, some things she’ll never get to experience that I so very much wanted for the little baby girl that grew in my womb.

[Holly Carmichael @CarmichaelHolly]

I know it will be hard to undo damage done and that her cerebellum is already significantly atrophied. I will still hope. As a rare disease parent hope is the fuel that drives us. Sometimes it’s the only thing we have. I’ve found that I have to balance hope with acceptance.

[Holly Carmichael @CarmichaelHolly]

Epalrestat isn’t a cure for #PMM2CDG but I believe that it is a potential treatment that can improve quality of life. I’m not giving up hope that someday we will cure CDG and I hope it’s in Maggie’s lifetime.

[Holly Carmichael @CarmichaelHolly]

I honestly didn’t know what to expect when we first ventured down our PerlQuest with @eperlste and @PerlaraPBC. Part of me expected nothing and part of me thought we’d find a magic bullet to cure CDG. It ended up being somewhere in between.

[Holly Carmichael @CarmichaelHolly]

Finally, a scan of Maggie’s liver showed a healthy result that was actually better than the last time this test was administered when Maggie was 3 years old.

We’ve been extremely excited by the results we’ve seen.

[Holly Carmichael @CarmichaelHolly]

A lab test that measures the glycosylation of a protein in the blood called transferrin showed a trend toward readings in the normal range. Another lab test that measures a biomarker in urine showed a strong positive result.