Imagine this is your son sitting before some of the most powerful people in the US. Would you have asked any questions affecting whether he might get a chance to live? If confirmed, Heidi #Overton will hold the lives of Ryu and other boys with #Duchenne in her hands. How many questions were asked about: 🔹30M Americans with #rarediseases? 🔹Use of accelerated approval? 🔹Use of regulatory flexibility? 🔹Creation of a conditional approval pathway for terminal rare diseases? 🔹Rights to AdComms? 🔹Whether she believes EAPs are a substitute for approval? 🔹How the FDA will weigh the expert trial investigators' opinions? People with #ALS, #Huntingtons, #ataxia, #Duchenne, #amyloidosis deserve an FDA that acts with the urgency that these diseases are killing them. The Senate needs to ask these questions to ensure they protect these vulnerable Americans. @GOPHELP @SenateDems @SenateGOP @SenateAging @HELPCmteDems #PatientCare #patientadvocacy

Caring for my 88 yr old Dad with dementia. This touched my heart 💕

The news we have dreamed of is finally here: the Phase 3 FUSION trial for ulefnersen, the treatment that began as jacifusen, met its primary endpoint. This is history-making news for FUS-ALS. Learn more: bit.ly/4zcHKaT

If 6 months extra survival is good enough for regular approval of a cancer therapy then 5 years extra survival should be good enough for accelerated approval of an #ALS therapy. Happy for #pancreatic cancer patients as I lost my paternal grandmother to it in less than 6 months. Study's 13 month survival is big deal: ~6 months longer life. DOUBLED survival! @FDADrugs you know what's even more impressive? The 5 year trach-free survival benefit (7.5 vs 2.5 yrs) in the #NurOwn EAP. TRIPLED! Small EAP but profound response and more patient treatment years than the P3 trial. The #ALS community is still waiting for a response to this RWE submitted in the Citizens' Petition -- evidence the @FDA has never considered. @FDA_KyleD Please make this right. Give people with #ALS the same chance you gave people with pancreatic cancer. Please don't continue the Type II error of past Administrations. THOUSANDS of Americans are #DyingWaiting. #rarediseases #EndALS #stemcells #biologics #neurology #cancer #oncology @SenRonJohnson @SenGillibrand @SenRickScott @LeaderJohnThune @ChuckGrassley @ChrisCoons @SenBillCassidy @SenatorWicker @SenTomCotton @JohnBoozman @SenJohnBarrasso @RandPaul @GOPHELP @HouseCommerce @RepGuthrie @RepJohnJoyce @RepMGriffith @RepMMM @RepAndyHarrisMD @RepGregMurphy @Bilirakis @DorisMatsui @RepSchakowsky @KenCalvert @TomColeOK04 @RepBrianFitz

Ryu is a hero. People without rare diseases don't understand the strength it takes to fight for your life medically... and then the resilience to implore Congress and the President to give you a chance at more time. @FDA shouldn't be blocking promising therapies that can help give people more time. @FDA_KyleD @FDADrugs Act wth the same urgency as you would if this were your son. Use accelerated approval to get drugs in bodies NOW. Approve @Capricor's #deramiocel. #EndDMD #EndDuchenne #rarediseases @SecKennedy @SenRonJohnson @SenGillibrand @SenRickScott @SenatorAndyKim @SenatorWicker @RandPaul @SenBillCassidy @LeaderJohnThune @SenJohnBarrasso @ChuckGrassley @GOPHELP @HouseCommerce @SenateAging @RepGuthrie @RepMGriffith @RepJohnJoyce @RepAndyHarrisMD @RepGregMurphy @RepMMM @RepSchakowsky @DorisMatsui

Barack Obama at his last press briefing with reporters, 2017: "I have enjoyed working with all of you. That does not, of course, mean that I've enjoyed every story that you have filed, but that's the point of this relationship. You're not supposed to be sycophants. You're supposed to be skeptics. You're supposed to ask me tough questions. You're not supposed to be complimentary, but you're supposed to cast a critical eye on folks who hold enormous power."

New study published in @TheLancet today. Fabulous news that ASO #Jacifusen is showing "possible efficacy" & hope for people with Juvenile #ALS caused by the #FUS mutation. • 12 people aged 16-45 • NfL decreased by 82% at 6 months • 1 person showed "unprecedented, objective functional recovery after 10 months" • 1 person remained asymptomatic, with documented EMG improvement Thanks to the brilliance of @ionispharma scientists, the neurologists at @ColumbiaMed, the bipartisan efforts of @TeamPelosi to get early access for Jaci, and the @US_FDA for showing regulatory flexibility. But most of all, remembering Lori Hermstad today... the Mom who lost both her twin daughters to FUS ALS. Through her unspeakable pain, she courageously fought for Jaci's access to this therapy. What a bittersweet day for the Hermstad family but what a legacy her girls have left... changing the lives of so many others. #EndALS #alsawarenessmonth #LouGehrigsDisease #SomeIsEnough @DrMakaryFDA @SecKennedy @FDACDERDirector

BRAVO to @ionispharma. This ASO breakthrough will help 100s with an ultra-rare genetic form of #pediatric and #juvenile ALS. Let's not forget this therapy resulted from the tragic loss of the Hermstad twins and their mom's fight for #ExpandedAccess in 2019. The therapy was originally named #Jacifusen after JACI Hermstad. @SenateGOP @LeaderJohnThune @ChuckGrassley @SenBillCassidy @ChrisCoons @lisamurkowski This is also why the Senate must reauthorize the ACT FOR ALS that funds EAPs for #ALS. EAPs change lives. #EndALS #RareDiseases #UltraRare #FDA #neurology #pediatrics #pediatrician #MND #FUS #genetics @iamalsorg @youralsnetwork @ALSMidAtlantic @ALSUnitedCT @ALSofGNY @ALSUnitedIL @ALSunitedOhio @ALS_RockyMtn @ALSGeorgia @ALSUnitedRI

This week in medicine 1. Dana-Farber/23andMe show that a rare inherited EGFR mutation increases lung-cancer risk 25-fold - and 62-fold in never-smokers. 2. City of Hope researchers develop a new blood test that detects early stage (I–II) pancreatic cancers with ~87% sensitivity - by combining a 10-miRNA signature with the existing test, CA19-9. Bigger trials up next. 3. Novo’s CagriSema delivers 19% placebo-adjusted weight loss in a phase 3 obesity trial - and, in a separate phase 3 trial in type 2 diabetes, beats low-dose tirzepatide for weight loss (12.4% vs 9.1%). 4. Mayo Clinic/n-Lorem researchers develop a personalized antisense oligonucleotide for a single patient with CHCHD10-mutant ALS. After a year, markers of neuronal damage dropped, and clinical/lung function stabilized or even improved. 5. GenFleet’s oral KRAS G12D ON/OFF inhibitor produces responses against both pancreatic and lung cancer in a phase 1 trial - and moves straight to phase 3. Its differentiation is that it targets both active and inactive KRAS. 6. Brigham researchers find evidence that Epstein–Barr virus reactivation precedes multiple sclerosis relapses by weeks to months. 7. Stanford researchers build a Virtual Biotech, with >37,000 AI agents - finding that drugs targeting cell-type-specific genes were 48% more likely to get approved, with 32% fewer adverse events. 8. Bayer’s finerenone gets FDA-approved for chronic kidney disease in type 1 diabetes - the first new treatment for this population in more than 30 years. 9. Stanford researchers find that the anti-seizure drug, levetiracetam, may directly inhibit diffuse midline glioma. Children taking it had longer survival (in retrospective cohorts) - prospective trials up next. 10. A European trial finds that, after removal of high-risk colorectal adenomas, waiting 5 years for the first surveillance colonoscopy is just as good as doing one after 3 years - potentially almost halving the number of follow-up colonoscopies needed.

If you've watched football this season, you've probably seen the new State Farm ad with Giants RB Cam Skattebo. It shows him repeatedly smashing his head into things during his daily life off the field. This comes after his comment earlier this year that “CTE isn’t real; it’s an excuse.” For the families I speak with every day, CTE is no laughing matter. CTE is a real, progressive brain disease associated with repetitive head impacts. It can profoundly affect a person’s cognition, behavior, mood, and quality of life, and its consequences extend far beyond the individual diagnosed. For these families, there is nothing funny about the devastating toll of CTE.

My daughters deserve to grow up with their brother. They should have him there to dry their tears when they fall. To annoy them in the backseat. To watch them learn to drive. To cheer too loudly from the sidelines. To celebrate their graduations. To dance with them on their wedding days. They should have a lifetime of ordinary moments with their amazing brother. With Duchenne, we don’t get to take those moments for granted. When bureaucrats in Washington make decisions about whether to approve treatments, it may look like paperwork. But to us, it is whether my son gets more birthdays with his sisters. This is my family’s future. We need urgency. We need options. We need hope. Please @FDA, prioritize the rare disease community.

🎉 @MayoClinicNeuro n-of-1 ASO study that targets ultra-rare CHCHD1 genetic subtype of ALS: ↗️ ALSFRS-R score improved from 33 to 36 (Typical decline = 1 pt/month) ↗️Breathing (VC) improved from 48% to 55% (Typical decline = 2.7%/month) ↘️Harmful Plasma biomarker NfL reduced 50% - back to normal People don't improve with #ALS. They did on this therapy. Like #tofersen for #SOD1 ALS, another ASO is causing disease modifying changes! #CHCHD10 affects <1% of #ALS population -- estimates of a few dozen. @FDADrugs & @FDA_KyleD This is EXACTLY the type of therapy that should get accelerated approval under Nat'l Priority Voucher Program. If "progression-free survival" is good enough for cancer accelerated approval, it should be good enough for #ALS. Dozens of others are #DyingWaiting Thanks @n_lorem @eperlste for funding this study. Thanks to the trial investigator Bjorn Oskarrson of @MayoClinic Jacksonville #EndALS #rarediseases #UltraRare #neurology #neurodegenerative #MedTwitter #NeuroTwitter #Nof1

Important #ALS study by @MayoClinicNeuro for an ultra rare form of inherited ALS. #EndALS

ALS research is advancing faster than ever. New diagnostic tests are helping doctors identify the disease earlier and more accurately, and targeted treatments already exist for some genetic forms of ALS. Dr. Bjorn Oskarsson, a Mayo Clinic neurologist, says new drugs are in human trials, providing growing hope for effective treatments ahead. Learn more about ALS: mayocl.in/4dy1o7Y

"When he's on the mound, he's as good as anyone in the business." #MLBCentral discusses Blake Snell leaving last night's start early with a groin injury with 10 days remaining in the regular season.