r/FSHD

To my fellow FSHDers, some good news—unless someone else has already posted it.

The main link worth reading:

https://investorrelations.sarepta.com/static-files/7de668c5-4a60-440c-8dd9-22884fd57703

It absolutely blows Avidity’s intracellular concentration and DUX4 reduction results out of the water.

Phase 2 enrolment is expected to begin in late 2026 (october) or early 2027:

https://www.sarepta.com/community-letter-update-fshd1-clinical-development-program

I have been living with FSHD since I was 4 years old, and I am now 18. I read in an article that individuals with Infantile FSHD usually die in their 30s due to lung complications. How valid is this?

Also, I would like to talk more about FSHD.

I went through a partial nerve conduction and emg earlier at the hospital. I got through the needle part but didn't get through the shock part.

They kept shocking my neck? He was trying to check my shoulder he said but they kept shocking my neck over and over and it got so intense I had to stop for a moment.

The doctor said everything was in normal limits and acted like he had enough info. He even said anymore shocks would be "extra". Come to find out when I checked my results later it said that they only had partial results and didn't get to finish the test because I couldn't tolerate it!

I felt like he was just impatient and wanted to move on!

I'm upset. I felt they rushed and if I could have rested a bit I could have gotten through the rest of it. I feel like the doctor wasn't listening.

And I am so confused as to why they were shocking my neck (making my head jerk to the side over and over) instead of shocking my leg muscles or even my arms????

And no answers from this. I feel defeated. I asked about genetic testing and he said it would be up to my doctor but that it's really hard to diagnose from genetic testing.

Some days I feel like what is the point of doing this.

Some notes about me:

-Lifelong muscle weakness and fatigue, gotten worse the last few years (I'm 44 now) have immense difficult walking up stairs or hills or with exercising. Have muscle weakness when I raise my arms over my head and some facial weakness (can't smile fully).

-My mother had profound muscle weakness her whole life.

- My neurologist suspects congenital myopathy or myasthenia but ck is normal and now nerve conduction is normal. Partial emg was apparently normal.

- Waiting on fshd genetic testing.

- Would like to get full genetic testing one day

Did I mess up? How helpful is the shock part of the test? Should I try again one day? (If insurance will even cover that) 😭

Guess I'm just writing this to vent mostly. But I welcome any experiences or knowledge anyone may have.

Hi friends! While this is DMD news, I actually think it’s a huge milestone for those of us following Del-brax.

Avidity/Novartis officially submitted the BLA for their DMD drug, Del-zota, meaning it’s now officially in the FDA’s hands for review (the FDA has ~ 60 days to accept, and then the six-month Priority Review timeline starts).

Here’s why this matters for us: by the time Del-brax is submitted, it won’t be the FDA’s first AOC rodeo.
Del-zota and Del-brax are built on the same AOC platform, and a BLA is about a lot more than just whether a drug works or not. The FDA also reviews the manufacturing process, quality controls, preclinical package, and all of the platform-level science behind the therapy. (It’s like a massive 1000+ page submission package.)

So while Del-zota and Del-brax are different drugs, many of those pieces are shared across the AOC platform.

Now back to FSHD specifically. We just got high-level positive Phase 2b biomarker data, and before the acquisition Avidity announced the accelerated approval pathway was open for Del-brax. Novartis has since reiterated that pathway remains on the table while they evaluate the full dataset. 🤞

If those data support a filing, Del-brax could realistically be the next AOC BLA, potentially later this year (wishful thinking but you never know) or early next!

That’s what makes this news so exciting. By the time Del-brax lands on the FDA’s desk, it won’t be the FDA’s first time seeing this novel drug platform. They’ll already have spent months reviewing the platform through Del-zota, and Avidity/Novartis will have gone through the whole BLA process once already and can fold those learnings into the Del-brax application.

There’s still a lot we don’t know. But it really feels like the dominoes are starting to fall. If everything keeps moving in the right direction, it’s kind of wild to think we could have an IV in our arms sometime in mid-late 2027!

In EPI-321, the 3 patients who have reached the 6 month evaluation point all have increased lean muscle volume.

Another more summarized version of this info is published here: https://www.businesswire.com/news/home/20260626528684/en/Epicrispr-Reports-First-Clinical-Evidence-of-Increased-Lean-Muscle-Volume-in-Patients-with-FSHD-Following-Treatment-with-EPI-321

I have recently been diagnosed (Dr Peter Jones and also UIDL) with FSHD1 at age 49. I am just beginning to learn what I can on the topic. Right away I am realizing I am very fortunate because my primary symptoms are a loss of my pecs, some weakness in the legs and hips, and chronic tight muscles with related aches. When my dad was my age he was using a cane to walk and braces for foot drop - that was 30 yrs ago and the doctors didn’t know what kind of dystrophy he had. Now we know.

Because my symptoms haven’t disrupted my life and I am getting to an age when people’s mobility and activity level declines, I am not sure all of my symptoms are from FSHD. I might be in denial or just hoping that it will not progress significantly for a long time. I also haven’t told anyone except my wife, sister, and therapist.

I have two kids, 18 and 12 and I feel like I should tell them. My 18yr old because he is starting to lift weights and has a very underdeveloped upper body that leads me to think I may have passed this on to him. My sister is adamant that I do not tell him because he will worry. I feel like I should because he may do damage if he pushes himself too hard in the gym. My therapist hints that I need to tell my family and social circle to fully accept what is going on and I can’t control how other people react. I also want to have people know why I have gotten skinnier and weaker over the years.

I think I can share the news and facts without being an alarmist or creating worry.

Has anyone else been in a similar situation? How did you decide on sharing the news with your children knowing there is a 50% chance they may have inherited the disease?

Hey everyone :)

I wanted to ask how you all cope with this.
Lately, I just feel drained and empty every day. I can feel and see my body getting weaker, and it’s hard not to think about what the future might look like. Deep down, I know things will probably get worse before they ever get better, if they do at all.
What scares me the most is the thought of becoming completely bed-bound one day. I try to focus on the small things and appreciate what I still have, but honestly, some days it feels impossible.
I’m only 18, and I already struggle with basic everyday tasks and finding a job. It’s heartbreaking knowing there are so many things I’ll probably never be able to do… Traveling, running through the sand, climbing a mountain, riding a horse, or just experiencing life the way other people my age can. Even smiling like a normal person would be a huge thing for me.
Seeing others do those things just hurts. It feels like I’m grieving a life I never got the chance to have.
How do you cope with these thoughts? How do you keep going when the future feels somewhat pointless?
Any advice would be appreciated..

Hello friends — as we approach this year’s International Research Congress, where I’m hoping we get some solid data drops and trial updates, I’m curious if any of you in trials are willing to share your completely anecdotal, highly unscientific observations. aka, what’s the trial tea?

Avidity/Novartis, Arrowhead/Sarepta, Epicrispr, clenbuterol, etc.

Have you noticed anything? New capabilities? More muscle mass? Better endurance? Less fatigue? Easier recovery? A side effect nobody warned you about? Absolutely nothing at all?

To be clear, anecdotes aren’t data, and one person’s experience doesn’t predict anyone else’s. I’m just curious what people are seeing on the ground while the rest of us impatiently wait for readouts and updates.

Feel free to share as much or as little as you’re comfortable with. Appreciate this community. We’re so close, y’all! 🧡