If 300 million people had the same disease, scientists in every country would be rushing to find a cure, and it would be easy to enroll patients interested in testing promising drugs. But study design, promotion, and recruitment efforts targeting 300 million patients with 10,000 different rare diseases is not so easy. Patients are spread out and hampered by financial constraints and isolation. Each disease or group of diseases needs well-designed studies with full participation to make progress in finding treatments for myositis and the other 95% of rare diseases that so far lack a cure.

Sluggish recruitment means some trials must be abandoned. In other cases, delays can dramatically increase costs, according to Janine Lewis. She’s the director of research operations for the National Organization of Rare Diseases (NORD), the umbrella organization for the 10,000 or so rare diseases identified so far.

“Suppose you’re recruiting for a trial set to start in 2025 and it’s 2027 when you finally have enough patients to get started,” she said. “That delay can mean millions of dollars, dollars that weren’t included in the original research grant.”

Yet miracles in rare disease treatment can happen. Lewis mentioned the recent discovery of a treatment for a type of spinal muscular atrophy identified in newborns. A few years ago, a child born with this rare disease would be expected to die before his second birthday. Thanks to several recent breakthroughs in research, however, that child has a chance to develop and grow up normally.

Many myositis patients would like to be in drug trials but rule themselves out when they read the exclusion criteria. Lewis says some conditions for joining a trial can be pretty nuanced and suggests that patients who have questions about their eligibility should call the trial nurse (the number listed on the recruitment statement) directly rather than automatically disqualifying themselves.

While it’s exciting to think of participating in a trial that might result in a pharmaceutical breakthrough, Lewis says it’s also important to contribute information about your particular case to the studies that help scientists understand how diseases progress over time. Scientists use this information to establish damage markers for each disease and to reach consensus on what constitutes successful treatment. That’s why natural history studies and patient registries matter, she says.

Also important: Helping clinicians, pharmaceutical companies, researchers, lawmakers, and others understand what it really means to live with a rare disease, especially one that’s not normally in the public eye. You can do this informally by educating community and national leaders about your lived experience, or by participating in more formal sessions, like the Externally Led Patient Focused Drug Development (EL-PFDD) meeting with the FDA held last June for patients living with dermatomyositis and their care partners. Lewis also invites all those affected by myositis to share their experience of living with a rare disease in NORD’s Living Rare study.

You can also find currently recruiting clinical trials and natural history studies on TMA’s website.

Theresa Curry served as Communications Director for TMA for many years before retiring in 2017.

The post Rare disease research depends on you appeared first on The Myositis Association.

Before I retired, I worked in the pharmaceutical industry, helping drug development teams make their strongest case to the FDA for approval of their compounds across a broad range of therapeutic areas. Now as a person living with inclusion body myositis (IBM), I had been looking for opportunities to participate in a clinical trial, eager to “see it from the other side” as a participant rather than someone charged with interpreting the results.

When I heard about the Phase 2/3 trial of Abcuro’s ABC008 (now known as ulviprubart), I was all in. My decision to participate was easy to make, as I suspect it would be for most of us with IBM. We don’t have a well-recognized drug therapy and most of us (including me) don’t take any drugs for IBM. What do we have to lose? Being on placebo isn’t a major concern, as that would be the same nothing we currently have. And the earlier tests of the drug did not raise significant safety concerns.

My first task was to determine whether I would qualify. The listing of “Eligibility Criteria” on ClinicalTrials.gov very helpfully laid out the minimum requirements. There would be other inclusion and exclusion criteria, but what’s shown there was enough to get started.

• Sometimes, the criteria may seem arbitrary and restrictive. From my work experience, I know that criteria help ensure that enrollees can perform the activities—such as standing up from a chair—that are evaluated in the trial.
• Eligibility criteria have the additional role of establishing a relatively homogenous (similar) group of participants. This is important for the interpretation of the trial results. If the groups are similar, any differences seen between those getting the drug and those getting placebo can be seen as the drug’s effect, and not some other factor.

The second task: which of the trial sites might consider me? I knew that my chances would be better with an organization that had access to my records and where I had established relationships with providers over the years.

• For me, that meant the Myositis Center at Johns Hopkins University, where I had been followed since my diagnosis in 2014. But Hopkins was not listed as one of the first sites to be open for enrollment.
• With a total of 18 visits over 80 weeks, the site would need to be reasonably close to home. Honestly, we underestimated the time and burden of travel on me and my family. Still, I am retired, and the flexibility in my schedule should make it possible.

The third step: to make contact and find out if the sites that were convenient for me were considering new patients for enrollment. If so, what information would they need to see and how could my records be transferred? In my case, there was particular interest in my muscle biopsy, which is almost always necessary to confirm the diagnosis prior to enrollment in any IBM trial.

My profile seemed to fit the needs of the trial, and I was offered an appointment to begin screening at a trial site in Boston. It took several visits to complete the tests and confirm that I qualified. These early visits also educated me about what to expect: the time and activity commitments I would be making, what was known so far about the drug’s effect, and what side effects I might expect.

• Screening is a bit of a black box, involving a lot of blood tests (15 tubes!), a physical exam, an in-depth review of my health status, and some less formal evaluations. Was I able to perform the necessary muscle tests consistently? Was there anything in my health history (like cancer or severe arthritis) that could interfere with the trial? Was I likely to be a reliable participant in the trial? (Missed appointments lead to gaps in the data, which can make the results less reliable.)

All aligned for me, and I was invited to enroll. At my initial visit, I signed the informed consent, repeated many of the screening activities to establish a baseline, and received my first dose of test medication. I was on my way for the 80-week study entitled “Randomized, Double-blind, Placebo-controlled, Multicenter Trial to Determine the Efficacy and Safety of ABC008 in the Treatment of Subjects with Inclusion Body Myositis.”

After an initial flurry of visits, I settled into traveling to the clinic every eight weeks, where multiple tubes of blood were drawn, various tests were performed, and I received a dose of the test medication. A study nurse administered it by an injection under the skin in my abdomen. It may have been placebo, or a low dose (0.5 mg/kg) or a high dose (2.0 mg/kg) of ulviprubart. This was a “blinded study,” which means no one knows whether I received drug or placebo. (Not me, the doctor, study nurse, pharmacist who prepared the dose, nor anyone at the company know what my injections contained.)

At the end of the trial, I was offered enrollment in an “open label” follow on study, which means everyone knows that we are receiving the drug at the highest dose: 2.0 mg/kg body weight.

• I had both hoped and expected that the company would offer such a trial. The purpose of this type of trial is to learn what happens as patients stay on the product for longer periods of time, perhaps even several years. Do new side effects emerge? Does the product seem to maintain its effect over time?
• People ask me whether this second study is being done because the first study showed evidence of efficacy. It’s important to note that no one knows the results of the double-blind trial. That answer won’t come until the final patient in the initial study completes their final study visit. All of the data from all of the 250 or so patients would then be entered in the database. There’s a disciplined, lengthy process by which the data is checked for accuracy and completeness before the database can be “locked.” Only then can the patient data be sorted into groups by who received drug and at what dosage and who received placebo to allow the effect of the drug to be compared to placebo.

I am frequently asked is ulviprubart helping? My honest answer is, I don’t know. I feel as if my disease progression is slow, but it always has been slow. Based on what I have learned about the medication, I don’t expect to regain the strength I’ve lost as it does not rebuild muscle. What is does do is deplete (remove) a particular type of T cell that is believed to be involved in IBM. Based on a report presented at the American Academy of Neurology meeting, it does that very well.

The real question is, does depletion of the problem T cells matter? More specifically, does ulviprubart affect the progression of IBM?

• To obtain regulatory approval, the drug needs to show in a clinical trial that it changes how patients feel, function, or survive. The hope is that the first study will show that ulviprubart slows, or perhaps even stabilizes disease progression as measured by the IBM Functional Rating Scale (IBM-FRS) and that this change is different from what is seen with placebo.

As we all know, it’s difficult to measure disease progression with precision, and while the IBM FRS is the primary endpoint, additional data from other types of tests are being collected to help understand other effects of the drug. These other tests include MMT (manual muscle testing), TUG (Timed Up and Go: how long does it take the patient to get up from a chair, walk three yards, and return to the starting position), strength measurements of fingers and legs using dynamometers, and several PROMs (Patient Reported Outcomes Measures: questionnaires filled out by patients.)

When will we know? We understand that the initial read of the primary endpoint of the placebo-controlled trial is currently planned for first quarter 2026. Until then, all of us living with IBM are eagerly awaiting the results.

Martha Arnold is a former member of TMA’s Board of Directors. She has a background in marketing and regulatory communications within the pharmaceutical industry. Martha was diagnosed with inclusion body myositis in November 2014. She lives in Pennsylvania with her husband Mark.

A version of this article was published in the Summer 2025 issue of The Outlook magazine.

The post Seeing the other side: On being a clinical trial participant appeared first on The Myositis Association.

Because myositis diseases are rare, it’s sometimes hard for a company to recruit enough patients to test their products and show significant results. That’s why TMA encourages individuals to participate in clinical trials if they can.

If you’re thinking about joining a clinical trial, it’s important to ask the research team a lot of questions and feel like they have all been answered to your satisfaction. Here are some things to consider:

• What is the purpose of this clinical trial?
• Why is this treatment considered a good approach?
• Who is funding the trial?
• Who has reviewed the clinical trial protocol and approved it?
• How will my safety and wellbeing be monitored?
• What if my condition gets worse or I have side effects?
• How long will the trial last?
• What is the commitment I am being asked to make for this trial?
• What is a placebo and what if I get this instead of the real drug?
• How will I be informed of the results?
• What are the risks and benefits of this trial?
• How do the risks and benefits of this trial compare with other options?
• What kinds of therapies, procedures, and tests will I need to have during the trial?
• Will I be able to take my regular medications while I’m in the trial?
• Who will manage my medical care while I’m in the trial?
• How could being in this trial affect my daily life?
• Can I talk to other people in the trial?
• Are there things about the trial that I shouldn’t talk to my social media networks, friends, and family about?
• Will I have to pay for any part of the trial? If so, what will the charges be?
• Will my health insurance have to cover any costs?
• Who can help answer any questions from my insurance company or health plan?
• Will there be any travel or childcare costs that I need to consider while I am in the trial?

These myositis clinical trials are currently recruiting participants.

Have you participated in a clinical trial? Tell us what it was like. What tips would you add to this list?

Disclaimer: Clinical trials are not a substitute for your regular plan of care developed with you healthcare provider. This content is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your qualified health care provider with any questions you may have regarding your medical condition.

The post Tips for thinking about joining clinical trials appeared first on The Myositis Association.

TMA offers a research fellowship program to attract and encourage post-doctoral trainees (PhD and MD) and young physicians to pursue careers in the field of myositis research. TMA also funds research grants to initiate innovative pilot projects that will support larger funding opportunities.

Since 2002, The Myositis Association has funded research designed to understand the underlying causes and natural progression of myositis, develop better treatments and more effective therapies, and ultimately to create a cure for this collection of disabling diseases. Since that time, TMA has approved 61 research projects, including grants and fellowships, totaling over $8 million. 

The post 2021 TMA Research Awards appeared first on The Myositis Association.

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