Cyabymn

[Cyabymn @cyabydac1]

We've had all the fatal "regular" diseases in our family i.e. cancer. De novo (new and out-of-the-blue) HD diagnoses is just shattering. Rippling through multiple generations at the same time as family members -aunts, uncles, siblings, cousins) decide whether to test or not. New implications with those wanting to start a family. (Even in reduced or unstable CAG range, would need to go through expensive IVF with pre-genetic testing. It's $3K and 2-3 months just to make a probe, $400 for each embryo test which have 50/50 HD positive chance. That's NOT including all the other standard IVF costs. Or Amino or CVS with possible difficult termination decisions). Or deciding to just not have children because of possible + gene status. Boyfriends/girlfriends dumping you. Constantly thinking about financial implications. Anyone can carry a high CAG repeat in expandable or reduced penetrance range- 1/325 do. You won't know it. It's a matter of luck whether it expands or dies out. If it can happen to us, it can happen to anyone.

[Ingentium Huntington's Disease @ingentium_hd]

The holistic burden of Huntington's disease: A qualitative study of multigenerational impact on individuals and family caregivers across Europe. https://t.co/XbLbVhYbRS

[DesertDweller_ROAR_4_A_CURE_4_HD @DesertDweller93]

Way to go @FDA_KyleD & @FDACBER for making this happen. Now move on to Huntington's Disease and please grant a CNPV for AMT130 from @uniQure_NV $QURE to help make up for the delays caused by your predecessors.

Also please change requirement for confirmatory study to compare to Enroll HD database of 40,000 patients and not an untreated cohort. Better yet, eliminate the confirmatory study entirely and just follow 100 commercially treated patients after accelerated approval with no need for a new time-consuming study that will take away precious resources and delay treatment to those needing the only therapy to slow this dreaded disease.

uniQure already treated 51 patients with AMT130 for HD. That is already a large population for gene therapy compared to other gene therapy approvals for rare diseases.

[Christina D @Christina4HD]

A BLA for a potential first-ever disease-modifying therapy for Huntington’s disease (HD) is moving forward.

More than 200,000 Americans are at risk. HD represents an extraordinary unmet medical need.

A fatal disease. No approved treatment that slows progression. Families who cannot afford more delay.

@FDA, is the CNPV program still moving forward?

This is exactly the kind of urgency the program was created to address.

💙💜

#HuntingtonsDisease

[Lauren Holder @laurencurehd]

I also appreciate the detailed explanation because it's difficult to get all of that across to other advocates. So thanks for making that part easier.

I also respect you greatly. You have fought alongside us through this and I am grateful beyond measure.

However, I hope everyone remembers that we are fighting for our lives. THIS confirmatory trial design isn't fighting for our lives. It will 100% cause progression of disease and irreversible damage for not 1 year, not 18 months or 2 years but THREE years. It doesn’t matter where they are located, that is unethical and wrong when we KNOW what this treatment does, when other regulatory bodies are not requiring the same thing because of how unethical it is. And we have the right to be angry because we have ALREADY been fighting this fight, and it feels like NO ONE IS LISTENING.

Another thing - right now IS a historic time for our community because for the first time EVER, WE HAVE OPTIONS! So - if no one is listening, if the KOL aren't fighting for something better because of what we as patients have been saying, why are we fighting so hard when they're okay with sacrificing brain function and ultimately lives with a trial design like this??

[Kerri (Houston) Toloczko @KerriHT]

Huge kudos to @MinoShah for pointing out consideration of rare disease treatments without input from rare disease patients and experts is ... well, not just dumb -- but harmful. Should a podiatrist treat a brain tumor? Of course not. So why are only generalists invited to participate in rare disease approval panels?

Let's GO, @FDA @FDA_KyleD @FDACBER. It ain't rocket science.
@chrispiaOTM29 @houmanhemmati @mike98572986 @LizzyLaw_ @HarrieScarlet @SavingSadieRae @LauraMclinn @laurencurehd @DrToonces @Elijahjstacy @twotreesthere @RepHarshbarger @RepAndyBiggsAZ @SenRonJohnson @SenRickScott
@dirod923 @rachelreising96 @PeterPitts @aVoice4ALS @RainConsulting @peter_mantas @RTWInstitute @RaeTennant50178 @rareRevolutionM @checkorphan @bradloncar @RighttoTryGuy @cyabydac1 @RareDiseases @RareAction
@PatientWo @RyuStrong_DMD @biospace
https://t.co/h9kP96dSA4

[Lauren Holder @laurencurehd]

What he said!
@FDA_KyleD
@FDA
@FDACBER
@fdacder

[Lauren Holder @laurencurehd]

💯 this. This isn't okay. This isn't better than before. The wording just changed - the requirements for the confirmatory trial are unrealistic and still unethical.

Just because the "sham" surgery isn't physically being done doesn't make this better. A "sham" or "placebo" arm is being required where the participants would not be able to receive the actual treatment or participate in any other research for THREE YEARS. Progression in that time would cause irreversible damage to the brain and most likely keep us from being able to participate in any future research.

And to require 200 participants in the USA for a rare disease like HD - my mind is blown by all of this. Yes, time for some serious discussion and advocacy.
@FDA_KyleD @FDA @FDACBER @fdacder @WhiteHouse

[Lauren Holder @laurencurehd]

Big news update today! This is actually a historic moment for the #huntingtonsdisease community. 💪💙

uniQure Announces Submission of Biologics License Application for Ifezuntirgene Inilparvovec (AMT-130) in Huntington’s Disease

"The Company has requested priority review for the BLA. If granted, priority review would shorten the FDA review cycle to six months following the FDA’s 60-day BLA filing review period."

https://t.co/hok0dHeZrg

I'm so so grateful to @FDA_KyleD and other members of the @FDA who have already shown their support and dedication to #raredisease communities. All I can say is I hope they #ActWithUrgency and remember that #TimeMatters. Irreversible damage is already occurring in those of us with HD, hence the saying "time is brain".

But today, let's celebrate this historic milestone of this BLA submission. 💪💙🥳
@WhiteHouse
@FDACBER
@fdacder

[Spondylitis.org @spondylitis]

Living with spondylitis means enduring constant, invisible chronic pain—even when your lab results appear "normal." It is time for Congress to SEE you! Because federal health agencies do not prioritize collecting chronic pain data, your treatment options remain limited.

You can change the system! Lawmakers introduced the "Advancing Research for Chronic Pain Act" (ARCPA) to compel federal research to focus on YOUR needs. We've launched a quick-action advocacy campaign that takes less than two minutes.

Join us today — don't let your chronic pain stay invisible! https://t.co/rzRG609IlX
#chronicpain #Spondylitis #ankylosingspondylitis #spoonie

[Cyabymn @cyabydac1]

https://t.co/5iDkWUvC3l

[Cyabymn @cyabydac1]

https://t.co/AE40qMYkGH

[Cyabymn @cyabydac1]

@hthurgood @Christina4HD @TheRock !

[Lauren Holder @laurencurehd]

Re-sharing my previous post that shows #therealhd and what progression can look like in #huntingtonsdisease. While our disease progresses slower than some others like #ALS, #TimeMatters because #DelayIsDamage to the brain. That damage is irreversible, just as it is in other neurodegenerative #rarediseases. Because our disease in particular is 100% genetic and I am gene-positive, I currently know what my future holds if no cure is found. That's why treatments like #AMT130 and #votoplam matter so much to us - because it buys some of us like myself time we currently don't have. This is why we should #ActWithUrgency.
@US_FDA @FDA_KyleD @KerriHT @houmanhemmati @FDACBER @Help4HDI @HDYOFeed @WhiteHouse @SenRonJohnson @SenRickScott @SenGillibrand @SenateAging @adamfeuerstein @Christina4HD @rachelreising96 @JRenz0418 @hthurgood

[HDBuzz @HDBuzzFeed]

Skyhawk Therapeutics have received the regulatory approval needed to broaden its FALCON-HD trial to include the United States, Canada, and the UK. The expanded trial will enroll up to 400 more people with Stage 2 and early Stage 3 HD across more than 40 sites worldwide.

[DesertDweller_ROAR_4_A_CURE_4_HD @DesertDweller93]

This is so true and why @FDA_KyleD needs to grant a CNPV to $QURE for AMT130 to get this treatment to those afflicted. Patients can't wait.

Everyone tagged below, please use your influence to make it happen. Thank you.

https://t.co/tGw0vrcbHJ

@uniQure_NV
@SenRonJohnson
@SenRickScott
@RepAuchincloss
@houmanhemmati
@adamfeuerstein
@armstrongdrew
@l_e_whyte
@temple_west
@laurencurehd
@JRenz0418
@rachelreising96
@geneveritas
@ScottGottliebMD
@BeckyQuick
@davidfaber
@AllysiaFinley
@MariaBartiromo
@bradloncar
@docrodwong
@LuckyPenguin10
@POTUS
@SenateAging
@SenBillCassidy
@SenRandPaul
@WhiteHouse
@SusieWiles
@StevenCheung47
@StevenCheung
@Scavino47
@FDACBER
@HHSGov
@MariaBartiromo
@RickSantorum
@FoxNews
@bariweiss
@60Minutes
@CNBC
@WSJopinion
@WSJ
@statnews
@BillAckman
@Loftus
@MartinShkreli

[Houman David Hemmati, MD, PhD @houmanhemmati]

@KerriHT @US_FDA @peter_mantas @RainConsulting @mike98572986 @rachelreising96 @laurencurehd More thoughts https://t.co/JAeCzgfRdH

[Christina D @Christina4HD]

On June 4, I joined @karlmiran at the @FDA to speak not only as a Huntington's disease advocate, but as someone living this reality every single day.

Huntington's disease doesn't wait.

It doesn't pause while policies are debated or timelines are extended. Every day of delay means more brain cells lost, more independence taken, and more families watching the people they love disappear.

My grandmother died from HD.
My father is living with mid-stage HD.
My aunt is further along.
My family and I are among those at risk because Huntington's disease has been passed through generations of our family.

That's why I urged @US_FDA to ensure Huntington's disease is prioritized through the Commissioner's National Priority Voucher (CNPV) Pilot Program.

When promising HD therapies are ready, families should not lose precious time to avoidable regulatory delays. Fatal, progressive neurodegenerative diseases deserve urgency.

Thank you to everyone who continues to stand with the HD community and advocate for faster access to promising therapies. A special thank you to @karlmiran for standing beside me and for your unwavering leadership.

Please help us urge @US_FDA to make Huntington's disease a true national priority. Families like mine do not have the luxury of time.

#HuntingtonsDisease #Huntingtons #CNPV #FDA #RareDisease #GeneTherapy

[Cyabymn @cyabydac1]

@mike98572986 @Master_SeaSeo They didn't entirely abandon the HD pipeline. Spark trial ramping up.

[Cyabymn @cyabydac1]

@hthurgood We 💙 Nathan! @TheRock

[Cyabymn @cyabydac1]

@RheumNow Are the recommended ages for the vaccines any different for AIIRD patients?

[Cyabymn @cyabydac1]

@laurencurehd @mike98572986 @peter_mantas Also, in regard to AMT-130, I thought they were possibly going to try to target presymptomatic CAG 40 and above for treatment, once it's approved? TIA