At AstraZeneca, we are committed to driving healthcare system transformation to improve outcomes for patients living with amyloidosis around the world. The launch of the global Accelerate Change Together (ACT) on Amyloidosis programme demonstrates our dedication to working with the broader healthcare community to achieve shared goals and transform amyloidosis care.
In collaboration with an international expert steering committee and healthcare systems worldwide, our ambition is to halve the time to diagnosis by 2028 and double the diagnosis rates specifically of transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), a type of amyloidosis that often leads to heart failure (HF), by 2030. This collaborative approach underscores our commitment to making a meaningful impact on the lives of patients and driving positive change in healthcare.
Early diagnosis and treatment are critical to accelerating change for people living with amyloidosis
The earlier a patient receives an accurate diagnosis and appropriate treatment, the better the outcome.1-2
Hundreds of thousands of individuals are impacted by ATTR amyloidosis worldwide,
a progressive and often debilitating disease that can be fatal if left untreated.3-5
In fact, one in six patients report
seeing more than five doctors before receiving a diagnosis of ATTR amyloidosis.6-8
Despite this, the global prevalence may be underestimated,
particularly the most common forms of ATTR amyloidosis that affect the peripheral nervous system (ATTRv-PN) and heart (ATTR-CM), which often leads to frequent misdiagnoses and cases going undetected for years.3,10,12,13
Early and accurate diagnosis in ATTR amyloidosis, leading to initiation of guideline-directed medical therapies (GDMT) and treatment, is essential to mitigate the impact of this disease on survival and quality of life (QoL).1 However, life expectancy for patients with ATTR-CM is currently only two to six years after diagnosis.1,11
Barriers to early diagnosis include a lack of proactive screening in those with HF for amyloidosis and subsequent delay in specialist care.12 There is an urgent need to end the loop of misdiagnosis through greater disease awareness and better patient identification.
Driving systemic healthcare changes in amyloidosis diagnosis and treatment
We are enabling proactive patient identification through different diagnostic tools such as artificial intelligence-assisted echocardiography, electronic medical record algorithms, biomarkers and genetic testing. These tools work together to detect the constellation of symptoms and red flags associated with ATTR amyloidosis.
We are also striving to strengthen and expand the referral pathway through disease awareness and education. As scientific advancements improve our ability to identify patients, greater awareness of early disease manifestations and the constellation of red flags becomes essential. This increased awareness helps link patients to the appropriate diagnostic pathways and equips physicians with the necessary resources to support accurate diagnosis and guideline-directed care. Improving healthcare system capacity in this way is crucial as more effective diagnostic tools become available.
With real-world evidence from clinical studies like our ANTHOLOGY programme, we aim to strengthen the rationale for practice change by highlighting the prevalence, disease burden, sustainability impact, and the need for early treatment. Raising global awareness of amyloidosis and emphasising the importance of improved patient identification and timely diagnosis will form the foundation for driving meaningful change.
Initiatives to address the barriers to early diagnosis
We are partnering with advocacy groups to understand patient experience, accelerate referral and diagnosis with appropriate specialists and expand healthcare system capacity. We are also advancing medical education efforts to build awareness of the condition and alert healthcare professionals to potential signs and symptoms of amyloidosis for timely activation and entry into the diagnosis and treatment pathway.
By broadening the understanding of contemporary disease patterns of ATTR amyloidosis, we aim to transform diagnostic pathways and accelerate referrals. Given the signs and symptoms of ATTR amyloidosis often mimic other diseases, leading to frequent misdiagnosis and delays, our goal is to enhance early diagnosis and treatment, ultimately improving the complex journey patients face in receiving timely care.
Through the ACT on Amyloidosis programme, we aim to enhance cross-specialty collaboration, raise disease awareness, expedite referrals, and ensure earlier treatment. Together, we are committed to creating a more efficient and effective healthcare system for all.
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References
1. Nativi-Nicolau JN, et al. Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness. Heart Fail Rev. 2022;27(3):785-793.
2. Gertz MA. Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges. Am J Manag Care. 2017;23(7 Suppl):S107-s112.
3. Gertz M, et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020;21(1):198.
4. Ionis Pharmaceuticals Annual Report. 2022, Ionis Pharmaceuticals.
5. Gonzalez-Duarte A, et al. Impact of Non-Cardiac Clinicopathologic Characteristics on Survival in Transthyretin Amyloid Polyneuropathy. Neurol Ther. 2020;9(1):135-149.
6. Witteles RM, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Heart Fail. 2019;7(8):709-716.
7. Carry BJ, et al. Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records. JACC CardioOncol.2021;3(4):550-561.
8. Lousada I, et al. Amyloidosis research consortium cardiac amyloidosis survey: results from patients with ATTR amyloidosis and their caregivers. Orphanet Journal of Rare Diseases. 2017;12(S1):Abstract P7.
9. Hawkins PN, et al. Evolving landscape in the management of transthyretin amyloidosis. Ann Med. 2015;47(8):625-38.
10. Adams D, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109-2122.
11. Maurer M, et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. Circ Heart Fail. 2019;12(9):e006075.
12. Benson MD, et al. Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines. Ther Clin Risk Manag. 2020;16:749-758.
13. Rintell D, et al. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. Orphanet J Rare Dis. 2021;16:70.
Veeva ID: Z4-66824
Date of preparation: August 2024