Acknowledgment: This story is sponsored by Alexion Pharmaceuticals and is promoted through the Patient Worthy Collaborative Content program. We only publish content that embodies our mission of providing relevant, vetted, and valuable information to the rare disease community.

A new clinical trial called the DepleTTR-CM study is underway to understand a potential new treatment for transthyretin amyloid cardiomyopathy (ATTR-CM). This new therapy, called ALXN2220, is designed to deplete (remove) amyloid proteins that have built up over time in the heart of people who have ATTR-CM. This new approach stands in contrast to current therapies, which generally attempt to slow the formation of new deposits in the heart.

By removing the buildup of amyloids, the drug is expected to reduce stiffness of the heart muscle in hopes that this will restore the heart’s function and improve the patient’s quality of life.

A Challenge to Diagnose

Like many other rare diseases, ATTR-CM is first frequently misdiagnosed as a more common condition. The disease can cause a range of nonspecific symptoms that are often attributed to other health factors, such as:

• Shortness of breath
• Swollen legs, ankles, or feet
• Wheezing and coughing, especially when lying down
• Rapid heart rate
• Difficulty thinking
• Palpitations or other unusual heartbeat rhythms
• Abdominal bloating

The hereditary form of ATTR-CM can also cause numbing or tingling sensations in the hands or feet, while the wild-type form is associated with carpal tunnel syndrome. The problem is that most of these symptoms aren’t useful for doctors to diagnose ATTR-CM on their own. In fact, they strongly resemble the symptoms of other heart-related diseases, such as high blood pressure-related heart failure or hypertrophic cardiomyopathy, in which the heart muscle becomes enlarged and thickened. Low awareness of ATTR-CM among doctors makes matters even worse because many cases are diagnosed at an advanced stage when treatment options are more limited. The DepleTTR-CM study is available at an advanced stage.

When to Start Asking Questions

You should start mentioning ATTR-CM to your doctor if you’ve been diagnosed with heart failure, but have other symptoms that seemingly aren’t related, like carpal tunnel or tingling in the hands and feet. Be prepared to advocate for yourself and push back if your physician expresses doubts; a genetic test could help save your life and get you the correct diagnosis.

ATTR-CM doesn’t affect all groups of people at equal rates. In fact, it’s concentrated in certain regions of the world, such as Portugal, Northern Sweden, Japan, and Ireland. In the United States, African Americans are more frequently affected, with up to 4% of people carrying a mutation linked to the disease called Val 122lle. Other risk factors for ATTR-CM include family history, family members with heart failure, and gender, with males being more likely to be diagnosed.

Medicine Can’t Move Forward Without Patient Involvement

Although the apprehension surrounding clinical trials is understandable – especially for patients living with chronic illness – there are many good reasons to consider getting involved in the DepleTTR-CM Study:

• The potential for early access to a new, alternative option for managing your condition that is designed differently than currently available treatments.
• Discoveries made in studies could result in treatment breakthroughs that may be more effective than current methods, which could benefit future generations of patients.
• Participants of all backgrounds with ATTR-CM are needed. Studies that are age, gender, and race diverse produce much more valuable and useful data.

Patients who qualify for and participate in the study will continue receiving their existing standard of care treatment for ATTR-CM. All required study-related exams and laboratory tests will be provided at no cost, and compensation for time and travel may be available.

Participants will be enrolled and randomized to receive either ALXN2220 or placebo in a 2:1 ratio. The investigational drug, ALXN2220 or placebo, will be administered intravenously (through an IV). Under the study protocols, there will be 27 infusions given over the course of 24 months. After 24 months, there will be up to 24 infusions up to 48 months. Each infusion is anticipated to last over an hour. Each dose will be followed by at least 30 minutes of observation after every infusion. The study is recruiting for at least 1,000 participants.

You may qualify for this clinical trial if you:

• Have a diagnosis of ATTR-CM.
• Are between 18 and 90 years old.
• Are willing to undergo genetic testing for TTR gene mutations.
• Have not undergone treatment with another type of drug using an amyloid depleting mechanism.

Participants are to be treated according to the standard therapy as determined by treating and study physician(s). This includes ATTR-adapted conventional heart failure treatment (including diuretics) and may include approved disease-modifying agents for ATTR amyloidosis.

If you or someone that you know is living with ATTR-CM, participating in this study could allow them access to a new, investigational option for managing ATTR-CM.