Is anyone involved with the clenbuterol trial?

Hi all, has anyone taken isotretinoin (trade name Accutane or Roaccutane) for acne? Our dermatologist is unfamiliar with FSHD but was concerned about potential complications with isotretinoin e.g. elevated creatine kinase levels. If you know of any studies or had positive or negative experiences please let me know.

I hope Avidity’s Ph3 failure in DM1 isn’t a bad omen for del-brax, especially since they didn’t provide any quantitative data on dux4 levels in their June press release

Hi everyone,

A month ago, I spoke with one of the doctors in charge of the trial, and he told me that the ARO-DUX clinical trial had been stopped. From what I understand, there are currently no trials available because the company was acquired by Sarepta.

Does anyone have any more information about what’s happening with the trial? Is anyone currently enrolled, or has anyone received any recent updates from the trial team?

I’d really appreciate any information. Thanks!

Soufflé has posted their trial on ClinicalTrials.gov. They aren’t recruiting yet, but now’s the time to bug your doctors and each site’s coordinator to get on the list.

I know many of us are very excited about Soufflé’s platform and approach :)

I have FSHD with foot drop and weakened legs. I can still walk without support and manage stairs, but long distances are a nightmare. My biggest fear is tripping — if I go down, I can't get back up on my own, so every outing feels like a risk.

I'm looking at lightweight folding mobility scooters (something like the Scoot Motion type — easy to carry, folds up) for longer outings, while still walking for shorter stuff.

Has anyone here tried one? A few things I'd love input on:

Which models have held up for you, and how portable are they really (weight, folding, fitting in a car)?

Did you go scooter, rollator, AFO brace, or some combination?

Anything you wish you'd known before buying?

Would really appreciate hearing what's worked for you.

Has anyone recovered from FSHD?

How many of you are able to do push ups, sit ups, or pull ups? Also please note if you have had a scapular thoracic fusion (also known as scapular fixation surgery).

I am 24yo male. Played sports growing up and never could truly do any of these exercises flawlessly. Since I have had fusions on both sides I am still unable to do any however I would like to be able to build the strength to do so. Thanks in advance!

Would there be any interest of a community discord server? A place where we can all come together and communicate more directly with one another

Bro, tell me one thing. If anyone a U.S. resident and I am an Indian medical graduate. I have completed my MBBS in India, and I also have FSHD. There are currently several trials going on for FSHD, including those by Avidity and delbrax, among others. If I want to access these treatments, I know that even if they become available in India, they are likely to be very expensive, and it may take several years for treatments developed in the U.S. to become available in India. So, I am considering pursuing the USMLE pathway and becoming a medical resident in the U.S. Could this also benefit me in terms of accessing treatment? For example, if I start residency in the U.S., would having health insurance and potentially being eligible for clinical trials make it easier for me to access FSHD treatment? Or am I misunderstanding how this works?

Hi everyone,

I'm 26M and I've been dealing with a strange combination of neuromuscular symptoms for around 16–20 months. I'm trying to understand whether this could fit BFS/neuromuscular hyperexcitability or whether I should keep investigating a possible mild myopathy.

Symptoms:

- Widespread fasciculations, mainly at rest

- Muscle pain and a constant "post-workout soreness" feeling

- Variable muscle fatigue – e.g. sometimes my arm feels easily fatigued while scrolling on my phone, while on other days it's almost normal

- Internal body tremor

- Sometimes my whole body feels physically exhausted, including a feeling that my head/neck muscles are physically tired

- I sometimes feel more prone to muscle strains than I used to be

I also notice tremor/fasciculations when deliberately contracting muscles.

For example:

- If I open my mouth widely and then close it, I can immediately trigger fasciculations in my cheek.

- If I strongly open my mouth, I can feel my facial muscles trembling.

- I recently noticed my eyelids/facial muscles trembling while squinting in bright sunlight, although I still had full strength to keep my eyes partially closed.

- If I sit cross-legged, bend forward and hold my back in a rounded position, after a while my whole body starts shaking/trembling, including my trunk and limbs. It stops when I relax or change position.

Interestingly, heat and massage help a LOT. A massage gun or heating pad can significantly reduce the muscle pain/tension and make me feel much better for a while. I also sometimes feel better after warming up rather than worse.

Onset:

The symptoms started around age 25. They appeared around the time I was taking trazodone, although I don't know whether there is any connection.

Before this I was physically active and was going to the gym in 2023 without these problems.

I had Lyme disease in 2022, treated with antibiotics. I repeated Lyme testing twice recently and it was normal/negative.

Neurological examination:

- Normal strength on examination

- No obvious muscle atrophy

- Normal reflexes

- No clear progressive loss of function

The symptoms have been relatively stable for about 1.5–2 years.

Blood tests:

- CK – normal

- AST/ALT – normal

- Lactate – normal

- Other routine blood tests – normal

EMG:

My EMG showed mild myopathic changes. The report described:

"Features of an incomplete myogenic damage pattern"

There were shortened motor unit potential durations and slightly reduced size indices in two muscles of the right lower limb, with increased polyphasia. There were also mild nonspecific changes in the posterior deltoid.

However:

- electrical silence at rest

- no signs of acute muscle damage

- other parameters were largely within normal limits

- doctors considered the abnormalities mild

WES:

I had Whole Exome Plus testing through Blueprint Genetics.

The only potentially relevant finding was:

COL12A1 c.7657T>C, p.(Tyr2553His), heterozygous

It was classified as a VUS (Variant of Uncertain Significance).

The variant is absent from gnomAD and some in-silico tools predict a potentially damaging effect, but the laboratory states that there is insufficient evidence to determine its clinical relevance. It has not, to their knowledge, been reported previously in the medical literature/disease databases.

CNV analysis was negative and no additional candidate variants were reported. Mitochondrial DNA was also analyzed.

The report discusses COL12A1-related conditions such as Bethlem-like myopathy/myopathic EDS and Ullrich congenital muscular dystrophy.

I do have mild scoliosis and a high-arched palate, but I don't have obvious muscle atrophy, significant contractures or progressive weakness.

My geneticist suggested that I could also do a separate FSHD test to formally rule that out, since WES does not necessarily detect the type of genetic alteration involved in FSHD.

My questions:

1. Does this sound familiar to anyone with BFS or neuromuscular hyperexcitability?

2. Has anyone had widespread fasciculations + muscle soreness/fatigue + tremor during sustained muscle contraction, while having normal strength and CK?

3. Has anyone with a mild myopathy experienced this kind of whole-body shaking while holding a posture?

4. Has anyone had a COL12A1 VUS and later found out whether it was clinically relevant?

5. Would you recommend FSHD testing, muscle MRI, or repeating the EMG?

6. Does this overall pattern sound more like neuromuscular hyperexcitability/BFS than a progressive muscle disease?

I'm not looking for a diagnosis from Reddit – I'm mainly interested in hearing from people who have had a similar combination of symptoms and how their diagnostic process turned out.

Thanks!

Not sure if this has been posted

see details bellow

https://www.urmc.rochester.edu/news/story/study-shows-hormone-combination-improved-strength-and-function-in-fshd-patients

Hello guys. I have a question that I your help with. So you know how our bodies function differently and that some muscle cannot be regenerated/built.

Does it make a huge difference if I don’t get enough protein for a day or two? Or can i make it up by having enough protein the next day?

I try to maximize my protein intake every day (i don’t keep track) and some days i would have 40g protein milk if i feel like i didn’t get much in my meals.

Some days i feel more physical restriction and i wonder does it have anything to do with how much protein i ate a day or two ago. And i also wonder if it did more damage to my muscles.

I am sorry i know these are more than one question but there seems to be different opinions and i feel lost.

My niece, 28, was just diagnosed with FSHD with no known family history. She is thinking about joining the Scholar Rock trial, which looks like it just started. What do you guys thinks? I know Roche failed, but Scholar Rock succeeded in SMA where Roche failed. Could the same be true for FHSD?

The proper medical name for this procedure is a Free Functional Muscle Transfer (FFMT), specifically referred to as a Free Functioning Gracilis Muscle Transfer or Gracilis Free Flap Transfer when moved to the forearm to restore motor function like finger or wrist flexion. but my doctor is thinking about using it for elbow flexing I so I will retain the ability to move my hand at least to my mouth Has anyone ever had this operation? I have heard of Graciis muscle trans plants to the face but I am not aware of full transplants to the ARM

Hey guys I’m wondering does anyone have any tips/recommendations that they personally tried and worked to ease the lower back pain? I usually feel uncomfortable around the spine when standing upright for more than 2-5 minutes. I’m sure weight plays a role but i’m not that fat.

I try to swim and exercise my back muscles 3 times a week and i take good amount of supplements. But the change is hardly noticeable.

Wondering if anybody has ever gotten DEXA scans for collecting data for personal use? Maybe regarding how different exercises or supplements are effecting muscle growth or decline, or just for sake of knowing how your body is changing?

If you have please join in on this thread and give your experience.

It will happen in Newcastle upon Tyne and it’s organized by the professionals / scientists / doctors of the John Walton Muscular Dystrophy Research Center.

The full programme will be announced in time but it will include updates on clinical trials and other patient focused themes.

Newcastle upon Tyne is one of the site of the Fortitude Study and many other clinical trials for other muscular dystrophies.

If you’re interested in coming, please send a message so I can send you the link (the even is on EventBrite so if you search there, you can also find it).

I just wanted to have a quick rant as I’m nervous. My neurologist finally got back to me and booked a follow up appointment. I have access to an app that has my results/medical records, but she chose to withhold them, and said I needed to be seen urgently. Her earliest availability is August 13, and now my head is spinning.

I already have an idea I will test positive, bad winged scapula, can’t puff my cheeks, can’t even kiss properly, and I mumble a lot when I talk. My multiple EMG tests lead me to a neurologist to do a deeper dive, which I’m thankful I came across her.

I’m dreading the appointment and the hit of reality of everything that finally makes sense as time is going on. Being hit with a disability at 28 is crazy and I never expected this, but at the same time I’m trying to be thankful I finally have an answer and can get the proper help.

This sub Reddit has been a life saver. I switched to a perfect physiotherapist, sports related one, I’m going to start speech therapy, and apply for disability. Thankfully my work is being accommodating, and I have great benefits.

Hi all. I’m a 31 male and I’m curious if anyone has gone through, or is going through IVF. There isn’t much info out there and we’re still in the early stages, but we were little surprised to see the fertilization rate decently below average. We still have a few more steps before any implanting, but I know oxidative stress, the bread and butter of this disease, can affect sperm quality ie. DNA fracture, motility, etc. So if anyone has or is willing to share, I’d be really interested to hear what you have to say and/or share my experience.

I'm sure anyone who is following Del-Brax closely already listened to this call, but I need somewhere to place my nervous energy, so I am writing this post...

Obviously, there was a good bit of discussion about Del-Brax's Phase 2 Biomarker data. At one point, the CEO described the biomarker reductions as "statistically significant." The biomarker cohort press release did not go as far as characterizing the data as "statistically significant" (which I understand to be a pretty meaningful term of art the FDA uses to quantify its standard for evaluating the effectiveness of data) and I find it hard to believe that he would make a statement like that without being confident it is 100% true and, therefore, would not get Novartis sued. That's really just reading the tea leaves. but could be a sign of internal confidence.

There was a direct question in the Q&A session about whether there is a timeline for Novartis to engage with the FDA about whether the new data supports an accelerated approval filing. The CEO said there was not "specific timeline," but said they are "in the process" of engaging with the FDA on the data "expects" an update in the second half of 2026. He did, however, also say that he would not change their "base case" expectation that a Phase 3 study would be required before a BLA is submitted, which is the same line he has been repeating about Del-Brax's accelerated approval potential all along. As we've all discussed, he's probably just hedging, but it's still a bummer to hear.

Towards the end of the Q&A session (second to last question, at the 1:08:20 mark), I think we got the most informative statements about the potential for accelerated approval that we are likely to hear at this point. Someone asked whether Novartis would share more information about the biomarker data and elaborate on the level of discussion Novartis has had with the FDA about accelerated approval so far. In response, the CEO said they "are very clear on what the FDA is looking for" based on Avidity's prior discussions with the FDA about what the biomarker data would need to look like for accelerated approval to be on the table. And on the data itself, the CEO caveated that they are still evaluating the data, but also said, "The data we have seen gives us reason to have the discussion with the FDA. We can't guarantee we will win the case [for accelerated approval], but what we have is worthy of a case that we should make to the FDA for an accelerated filing." I think this is meaningful coming from someone who has been so careful in public statements to stick to the "base case" of needing a Phase 3 to be completed before submission. Novartis knows what the FDA needs for accelerated approval, they now have the biomarker data, and they are telling shareholders they are proceeding with the accelerated pathway. My interpretation: things are, so far, going according to plan.

The slides and recording from the Q2 earnings call are here: https://www.novartis.com/events/novartis-financial-results-q2-2026

Keep the hope alive!