With the advent and optimization of nuclear scintigraphy protocols using bone-avid radiotracers, cardiac amyloidosis caused by transthyretin protein (ATTR) can now be diagnosed noninvasively without a tissue biopsy. The radiotracer 99mTc-pyrophosphate (99mTc-PYP) binds to deposited ATTR amyloid fibrils in the myocardium and can be visualized using planar and SPECT imaging. This is Figure 2, showing how SPECT imaging allows the reader to distinguish between blood pool activity (ventricular cavity, etc) and myocardial activity and identify regional myocardial differences in radiotracer uptake.
March 5, 2020 — More than 300 patients have joined the Amyloidosis Patient Registry and it is now available to the entire community, announced the Amyloidosis Support Groups (ASG), a nonprofit volunteer organization providing support nationwide for those impacted by all types of amyloidosis. The Registry is a compilation of data on the amyloidosis patient experience and is intended to become the new, go-to resource for medical researchers and caregivers in the pursuit of earlier diagnosis, better treatment and improved quality of life for those affected by this debilitating disease.
"The Amyloidosis Patient Registry is so important. We are at the tip of the iceberg for all types of amyloidosis — there is still a lot to discover. Patients joining together can make a great contribution to the knowledge of this disease," said Martha Grogan, M.D., founder and director of the Cardiac Amyloid Clinic at the Mayo Clinic in Rochester, Minn.
Amyloidosis is a group of rare, deadly diseases where abnormal proteins called amyloid build up in tissues and organs such as the heart, kidneys and nerves. ASG developed the registry as a community resource to advance the understanding of all types of amyloidosis by gathering patient-reported data about its impact on patient health and quality of life. The data collected by the registry, known as the "natural history" of the disease, will fill a large gap in the existing amyloidosis knowledge base.
"I am just thrilled that we've had this much early participation from our patient community," said ASG Co-Founder and President Muriel Finkel. "When the idea of a patient registry was first brought to me by Dr. Martha Grogan at Mayo, I presented the idea to our attendees at the 2015 amyloidosis conference in Chicago, where it was met with unanimous enthusiasm."
Finkel sees tremendous value in the registry. For example, it will help to better understand how amyloidosis progresses, lower barriers to diagnosis and treatment and identify self-management techniques that make it easier to cope with the symptoms. The data will aid in developing treatments and will alert people with amyloidosis about opportunities to participate in clinical trials.
Paula Schmitt, ASG executive director and registry manager, provided more context to the registry's performance, "We first announced the registry at our amyloidosis conference last October, and we gathered initial participants just by word of mouth at our support group meetings. That soft-launch approach let us test the platform and work out any kinks. I'm happy that we've already surpassed 300 participants. Now we hope to grow that participation number into the thousands by opening the registry to the entire amyloidosis community."
Data security and confidentiality have been top priorities for ASG in developing the registry. Because of this, the Amyloidosis Patient Registry runs on Genetic Alliance's Platform for Engaging Everyone Responsibly (PEER), which has hosted over 30 rare disease registries. The PEER platform allows each registry participant to control what data to make available for research and who can access it. After joining the Registry using PEER's secure online registration process, amyloidosis patients or their designated caregivers can provide information about the disease by completing a series of surveys covering symptoms, diagnosis, treatment, health issues, and life impacts. The patient data is de-identified in the registry so it remains anonymous to researchers without the explicit authorization of the patient. Further, any researcher who accesses the registry will have gone through ASG's approval process.
"With its rarity and multiple variations, amyloidosis is really hard to study," Schmitt emphasized. "It's difficult to gather enough people with amyloidosis to understand which health impacts are due to the disease and which are unrelated. Our Registry can be a game changer by providing data and insights essential to developing treatments and managing amyloidosis' impact on people's daily lives."
Patients are encouraged to participate in the registry at www.amyloidosissupport.org/registry
About Amyloidosis Support Groups
Amyloidosis Support Groups Inc. is a leading amyloidosis nonprofit volunteer organization formed in 2005 to provide amyloidosis support nationwide for patients, caregivers, families and friends of those impacted by this life-threatening disease. ASG connects countless patients and loved ones with leading amyloidosis experts and care resources through 47 local support group meetings in the United States plus a toll-free hotline and the ASG website. ASG produces highly regarded educational materials for the entire amyloidosis community, advocates for amyloidosis to federal government agencies, and hosts a biannual conference on transthyretin amyloidosis (ATTR). Find more information at www.amyloidosissupport.org.
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