By Jane Myles
Dermatomyositis (DM) has been described as a monster, one with many heads, which makes it hard to recognize, hard to predict which symptom will happen next, hard to know which treatment will help or make the person feel worse. Sometimes the monster sleeps, but patients still feel the anxiety of knowing that it’s still there but not knowing when it will reappear as a flare.
On June 7, 2024, adults with DM had a unique opportunity to share their experiences living with this monster with representatives from the FDA, researchers, and drug developers. The first-ever Externally Led Patient Focused Drug Development (EL-PFDD) meeting offered a critical way for patients and their family members to highlight what life with DM is like. This perspective is essential for stakeholders who are committed to understanding, measuring impact of, and treating DM.
Huge congratulations to Myositis Support and Understanding, The Myositis Association, our esteemed DM expert clinicians, and our brave patients and families for creating such a powerful and clear platform to help others understand the patient experience and unmet needs in diagnosis, activities of daily life, and treatment.
Drug development is strictly regulated to ensure clinical trials are ethical and conducted in compliance with complex rules to ensure scientific rigor and patient safety. Until recently, however, there was no agreed-upon approach for drug developers to seek patient insights when designing and planning clinical trials. I’ve been running clinical trials for 30 years—and I’ve been a DM patient nearly as long—but I never had a way to embed the patients’ needs into trial designs in a way that regulators could use it. That is why we are grateful that the PFDD framework exists and that DM was the focus of this meeting.
This externally led PFDD meeting took a year to organize with support from expert partners. It was flawlessly managed, fully on-line, with opportunities for the audience to take part by answering live polls, calling in with comments, or submitting written comments. It felt very much like we were all in a big room together, but the on-line format allowed more patients and families to be part of it. Nearly 400 people registered to attend the meeting, and more than 30 members of the US FDA attended.
The meeting used a town hall approach and followed a standard agenda focused primarily on patient and care partner input during two panels followed by open discussion.
- The first panel focused on the symptoms and daily impacts of the condition.
Five patients or their loved ones described the path to diagnosis, the initial stages of their disease, their challenges with activities of daily living, and the impact of DM on their lives today.
- The second panel of five focused on the current treatment approaches and what participants would look for in an ideal treatment. Some panelists discussed their concerns and decisions about whether to participate in clinical trials and the tradeoffs patients make to be part of trials.
Some of the key takeaways for me are not surprising but had a big impact and created a sense of urgency about the need for earlier diagnosis, better ways to evaluate whether treatments are working, and safer and more effective treatments.
- Most significantly for the clinical trial process is the fact that DM is a very heterogenous disease with a lot of different symptoms and patient journeys. This leads to significant variation in treatment recommendations, depending on both symptoms and the preference of the treating physicians, as well as access to specialists and health insurance.
- As a drug developer, it struck me how old our first-line treatments are. Newer biological agents such as IVIG and Rituxan have helped many patients, but prednisone is still the first and sometimes the most effective treatment. Prednisone is an old drug, with a lot of hard-to-manage side effects. I remember not recognizing myself in the mirror when I was on my high-steroid treatment regimen. It was, as one patient described, a double-edged sword, needed and hated.
- Several patients described their first symptoms including pain and fatigue, with or without muscle weakness. But pain is not a key DM symptom in medical textbooks and is not recognized by many clinicians. This still leads to misdiagnosis or delayed diagnosis and treatment for several patients. Furthermore, patients were not always “heard” by their doctors, especially those who are not DM experts. That had profound consequences for the patients’ confidence and belief that they were sick, as well as treatment decisions and timing. I was particularly upset to hear this from patients who are part of minority and underserved populations.
- Patients want to have more clinical trial options and to be able to take part in them. As patients, we need those trials to find new treatments. But the cost of participation is steep, especially if it means stopping your current treatment regimen, or the possibility of being on the placebo (sugar-pill) for up to a year while the disease advances. It was particularly important for our FDA and drug-developer stakeholders to hear those costs firsthand from trial participants and from patients who were unable to be in a trial based on their own personal DM journey and risks. There are better ways to conduct trials. For example, Digital Health Technologies could help us better monitor patients, their disease progress and quantify response to drug treatments
- Finally, I was surprised by how emotional the meeting was for me, and for some of panelists. Patients and care partners told their stories and shared their experiences honestly and openly. Their purpose for sharing was to drive understanding, not necessarily improve their own health. As a patient I was humbled by their courage, their challenges, and their will to help build a better future for those living with DM.
In summary, this was the first and only PFDD meeting for adult DM. It was critically important to drive change with regulators, clinicians, and drug developers on behalf of patients with profound unmet needs. It was inspiring and the beginning of a new journey together to change the lives of those who live with DM.
Jane Myles has spent her career in drug development at pharma/ biotech companies and startups promoting patient-centric approaches, raising awareness, and supporting the adoption of patient-focused clinical research. She has lived with DM for more than 25 years. Jane is a member of the TMA Board of Directors.
My wife died recently at age 80 having fought DM for over thirty years. Her treatment began with prednisone but graduated to IVIG the last being Octagam, it was successful for lower limb muscle but this time DM attacked her heart and she had very difficult time controlling aFib. She required oxygen fulltime and her breathing became increasingly problematic.
She died from septic shock. It came on very quickly and most likely due to her pleural pneumonia. She was tough to the very end.
David, we’re so very sorry to hear of your wife’s death. Please accept our condolences.
Several patients described their first symptoms including pain and fatigue, with or without muscle weakness. But pain is not a key DM symptom in medical textbooks and is not recognized by many clinicians.
This is very interesting, because I have no muscle weakness and no indication of muscle damage (CK 80), but I’ve experienced muscle pain since about two months after developing the signature rash across my knuckles. Some of it feels like “normal” post-exercise soreness, just worse than usual, and some of it is just plain weird, in muscles I’ve never really been aware of before and definitely hadn’t used recently with enough effort to cause any tenderness. The pain shifts around my body, not always the same muscles. So far it’s been fairly mild and I’ve kept physically active, and high doses of ibuprofen helped before I started more specific meds, but it’s also very aggravating and makes me cranky.
And yet my rheumatologist assured me that the sneaky thing about myositis is that muscle weakness is pain-free! When I asked, “so why do I have all these annoying sore muscles?”, the answer was, “we don’t know.”
Seems like it would be good to figure this out.
Hello Holly, For many years, doctors learned that myositis was a painless muscle disease. That has since been disproven by patients who overwhelmingly describe pain as a symptom of their disease. With rare diseases, though, it sometimes takes a while for accurate information to find its way around to the whole medical community. We’re working on raising awareness of this, though!
My wife, Kim, was diagnosed with DM in 2014. At first it was somewhat under control. Over the years she has got progressively worse. Particularly with calcinosis cutis. Her calcinosis cutis has taken over her entire body. I remember her first calcium spot showed up in her arm around 2017. Since then it covers the majority of her entire body. Many spots are painful as well. She was recently in the hospital for about a week from an infected calcinosis lump in her elbow. During this visit her Hemoglobin dropped under 7. Which caused her to get a blood transfusion. A very similar situation happened in October of 2023 as well. During that visit, the same spot in her elbow was infected as well. During that visit she had to get 2 blood transfusions. Has anyone here ever had a similar story? Anyone here with a lot of calcinosis cutis from their DM? Thanks in advance.
My mom got some infections on her elbow and started calcinosis . Its frustrating for me because doctors tdont tell you how bad an infection can be for someone with dermatomyocitis. The minute she gets a cut we have learned to immediately use this silver antibacterial cloth called interdry.