𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤

Gamma Sarcoglycanopathy-Limb Girdle Muscular Dystrophy Type 2C/R5-Dion Fdn-CureSGC-Kurt+Peter Fdn-LGMD Awareness Fdn-Speak Fdn-MDA-Cure Ultra Rare

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

@speakfoundation @LgmdAwareness

[LGMD Awareness Foundation, Inc @LgmdAwareness]

Have you received confirmation of your LGMD sub-type? If so, please consider having your name entered into a diagnosis specific LGMD Patient Registry.

📷 Access a list of LGMD Patient Registries at https://t.co/Yacs2Q2ZHx
#LGMDawareness
#CureLGMD
#TogetherWeAreStronger

[CheckRare @CheckRare]

Today is officially World #COL6Day! 🎉 Join us in celebrating the inaugural World
Collagen 6 Day, dedicated to promoting global compassion, research, and care for
those affected by COL6-related myopathies. Join the Virtual Congress:
https://t.co/0mLvhhChm6

#CheckRare #RareDisease #COL6Day #COL6Myopathy #RareGenetic #RareNeurology #RareMusculoskeletal

[LGMD Awareness Foundation, Inc @LgmdAwareness]

Help spread awareness by downloading and using our specially designed LinkedIn banners and Facebook timeline covers—invite your network to join the movement!

Find them here:
https://t.co/AJWc1aYVBj

#lgmdday2026

[LGMD Awareness Foundation, Inc @LgmdAwareness]

For more info, visit: https://t.co/KV07muujxs

[Sarah Nauser @SarahNauser]

Just in case you missed it!
The most priceless, special gift I have ever received.
This is a masterpiece and will serve as motivation to get me through my toughest days. Forever grateful for the @Royals and @kcroyalstv!
#SarahsSoldiers #FightLikeAGirl #StrongerTogether

[LGMD Awareness Foundation, Inc @LgmdAwareness]

The free activity book is perfect for sharing among children’s classrooms or youth groups, especially when a child who has LGMD is present or for promoting LGMD Awareness Day (September 30).

Place your order online at https://t.co/tSqlLmyGpV

Questions? [email protected]

[LGMD Awareness Foundation, Inc @LgmdAwareness]

Ready to take on the challenge? Download our 30-Day LGMD Awareness Challenge checklists and commit to spreading awareness all month long—one meaningful action at a time!

https://t.co/5tusGD6Cxh

#LGMDDay2026

[Sarah Langs @SlangsOnSports]

#EndALS

[LGMD Awareness Foundation, Inc @LgmdAwareness]

Help raise awareness by sharing our posts! To learn more about LGMD, please visit our website: https://t.co/737EGwYowk

#LGMDawareness
#LgmdDay2026
#TogetherWeAreStronger

[LGMD Awareness Foundation, Inc @LgmdAwareness]

It is time to request a proclamation from your State Governor or other public representatives.

Plus, we have resources available to assist you.

💚 Learn more at https://t.co/7TRGaTjmet
#LGMDawareness
#LgmdDay2026

[RyuStrong_DMD @RyuStrong_DMD]

We are so proud our editorial asking @US_FDA to open doors to rare disease treatments and patients has been so well received and roundly shared. Thank you, rare disease community! ICYMI - here it is again. Love, Angelina and Ryu.
https://t.co/fuAoPRZbWe

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

@AudonThiggy 4500 I believe is the total population that could benefit from the exon skippers. Exon 51 is theoretically 13% of total DMD so around 2K for that.

[BridgeBio Pharma @BridgeBioPharma]

The FDA accepted our NDA for BBP-418 for LGMD2I/R9 with PDUFA target action date: November 27, 2026. First-ever potential therapy for a disease that has never had one. $BBIO https://t.co/NrwDadc6rj

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

@AudonThiggy Exon skipping can give near full length dystrophin so I don't think micro dystrophin is the correct term here.

[Muscular Dystrophy News Today @mdnewstoday_]

Columnist Patrick Moeschen invites readers to join the newly relaunched Muscular Dystrophy News Today Forums, where a community is growing. https://t.co/tuJRY3VHKJ

#musculardystrophynews #musculardystrophy #musculardystrophycommunity #livingwithMD

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

@AudonThiggy @yachmod @MarkSharkKing You don't need to convince me but when there is a death it causes all sorts of consequences including cancelling LGMD2C which we went through all the pre clinical natural history etc. It really sucks when you know it works and don't even get a chance to make a decision.

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

The trial for 2D inclusion/exclusion was pretty strict. Plus participants had to weigh 70kg or less. The screenshot is from https://t.co/rBtn0PIDAW
I'm fairly certain that the elasticity of the liver was discussed as a possible contributing factor during one of the seminars within the last couple of months.
FWIW I started giving my daughter extra vitamin E and liver detox after the first death last March in anticipation for gene therapy. I think she'll have the labs done again in June but the first labs we did late last summer showed a decrease in liver values.

[Kerri (Houston) Toloczko @KerriHT]

Rare disease patients? Ignored, and promising treatments blocked by FDA under Marty Makary. This great piece by my friend @PeterPitts calls for new leadership to open doors and windows to rare disease. Yes, please. @realDonaldTrump @POTUS
https://t.co/pLsrXVr13f

[𝔼𝕕 ℂ𝕠𝕝𝕝𝕚𝕟𝕤 @edcollins23]

FDA put them all on clinical hold due to safety then of course they paused 2D and 2C. I can't recall which came first the hold or the pause. If cohort 8 safety looks good it should be able to carry over to 2E though. From my recollection they stated that by the end of the year they believed they could at least get the ball moving again.

Now here is the catch 22, if the prophylactic sirolimus proves to increase gene expression in Duchenne it's probably going to increase in the LGMDs also at which point potential over expression will be questioned I'm sure. Will they have to look at dose volume again? I don't know.