source: International Studies Association

year: 2022

authors: Nori, Mukund, Schmitt, Paula, Aparna, Donovan, Daniel J.

Background

 Amyloidosis is a rare, systemic disease that is characterized by a variable pattern of nonspecific symptoms and affected organs. These characteristics of amyloidosis are common among rare diseases and make them difficult to diagnose and treat. The 2 main forms of cardiac amyloidosis are light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis. One way to improve diagnosis is to increase awareness among physicians. – It is well established that physicians prefer peer-reviewed articles as their primary source for new information. However, this preference raises a barrier because rare diseases are collectively poorly represented in the medical literature. The research also shows that, until recently, patient and caregiver voices were practically absent, regardless of the rare disease. Encouraging signs include some recent publications providing perspectives of patients with amyloidosis. In the absence of a robust number of publications on rare diseases, patients and caregivers often become experts in their rare diseases. Regulatory agencies are increasingly seeking patient experience data (PED), in addition to clinical and statistical data from trials, as they make decisions on the utility of drugs and interventions, especially in rare diseases such as amyloidosis. Consequently, it is becoming essential that patient and caregiver voices are heard and incorporated as best practices in delivering health care.

Objective

To field pilot surveys as the first step in developing a validated survey that captures PED for patients with amyloidosis.

Methods 

Based on prior research, we developed a 62-question pilot survey to better understand patients’ experiences with amyloidosis. The survey focused on 3 categories affected by amyloidosis: Diagnostic journey; Interpersonal relationships; Attitude toward themselves. The survey was designed with 16 sets of questions to determine internal consistency of responses by each responder. The survey was fielded for 1 week from January 6-12, 2022, inclusive, on www.oneAMYLOIDOSISvoice.com, an online community of patients, advocates, caregivers, researchers, physicians, and other stakeholders.  The survey was limited to self-identified patients with amyloidosis. 

Conclusions

Our data on the diagnostic journey are consistent with previously reported data on patients with AL and ATTR amyloidosis. There seems to be a consistent pattern emerging from the different studies and surveys that awareness and suspicion of amyloidosis among cardiologists need to be improved. Understanding the psychosocial impact of amyloidosis, as with other rare diseases, on patients and their caregivers from their perspectives is equally as important as understanding the clinical outcomes of the disease for both humanitarian reasons and commercial success.

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