Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare but life-threatening heart disease caused by the buildup of abnormal deposits of transthyretin protein in the heart. For years, patients suffering from this condition had very few treatment options available. However, due to significant medical advancements in recent times, ATTR-CM patients now have real hope for managing their disease and improving outcomes. In this article, we examine the latest treatment approaches and ongoing research in ATTR-CM.
Understanding the Cause
ATTR-CM is caused by mutations in the transthyretin (TTR) gene that leads to misfolding and aggregation of TTR protein in the heart. There are two main types - hereditary ATTR-CM which is caused by genetic mutations and wild-type ATTR-CM associated with aging. The abnormal TTR deposits interfere with the heart's ability to pump blood effectively. Left untreated, this condition can lead to heart failure and death.
The rise of disease-modifying therapies
Till recently, Transthyretin Amyloid Cardiomyopathy Treatment options for ATTR-CM were limited to medications that only managed symptoms. However, major advances in recent years have led to the development and approval of the first disease-modifying therapies that can directly impact the underlying cause.
In 2019, the FDA approved patisiran (Onpattro) and inotersen (Tegsedi) - both RNA interference therapies that silence the mutated TTR gene and reduce production of abnormal TTR protein. Several clinical studies have demonstrated their ability to improve cardiac parameters and quality of life in ATTR-CM patients.
Another breakthrough treatment approved in 2021 is the small molecule drug tafamidis (Vyndaqel and Vyndamax). It works by stabilizing normal tetrameric TTR, preventing its dissociation into toxic amyloidogenic monomers. Data from pivotal trials show tafamidis slows disease progression and reduces all-cause mortality in hereditary and wild-type ATTR-CM patients.
Stem cell therapy trials show promise
An experimental stem cell therapy is also being studied as a potential cure for ATTR-CM. In early phase trials, researchers have shown that transplanted hematopoietic stem cells can engraft in the bone marrow and produce large amounts of normal TTR, effectively replacing the effects of mutations. Longer follow up studies are evaluating if this gene therapy approach can halt or reverse cardiac amyloid deposits. If proven successful, it may transform ATTR-CM treatment landscape.
Improving diagnosis and screening
Historically, ATTR-CM has been under-recognized and often misdiagnosed as heart failure from other causes. However, growing disease awareness along with advances in cardiac imaging, biomarkers and genetic testing have vastly improved diagnosis.
Echocardiography and cardiac magnetic resonance now enable accurate identification of amyloid deposits in the heart. Blood tests for cardiac troponin and NT-proBNP levels along with histological analysis of tissue biopsy are confirmatory. Genetic testing helps identify mutations linked to hereditary ATTR-CM. Screening high-risk groups like elderly men is key to earlier detection.
Managing expectations through ongoing trials
While the new treatment options have shown great promise, long term outcomes data is still emerging. Large outcome studies are underway to further establish safety and efficacy profiles of RNAi therapies and tafamidis over 5-10 years. Combination regimens including immunotherapies are also being explored.
Managing symptoms like arrhythmias, heart failure and cardiac dysfunction also requires a multidisciplinary team approach involving doctors, nurses, dietitians and allied health professionals. Open communication helps manage patients' expectations and promotes adherence to complex drug regimens.
Addressing challenges in access and cost
Widespread adoption of these high-cost specialty therapies can be challenging. Health insurers and policymakers need to address issues of access, coverage, reimbursement and affordability. ATTR-CM patient advocacy groups play a key role in patient support, counseling regarding clinical trials and drug access programs. International registries also help further our understanding of epidemiology, outcomes and health economics related to ATTR amyloidosis as a whole.
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Transthyretin (TTR) Amyloidosis Market Information: Disease (Transthyretin (TTR) Familial Amyloid Polyneuropathy), Gender (Male & Female), Treatment (Small Molecule Treatment), & End-User (Ambulatory Surgical Center, Clinics) – Global Forecast Till 2027Market HighlightsThe transthyretin amyloidosis market is expected to register a sturdy growth during the forecast period.
The global ATTR market is going to exhibit robust growth during the forecast period due to the probability of rising number of the launch of ATTR therapeutic drugs, increasing African-American population as they are genetically susceptible to the disease, increasing healthcare awareness among people, and rising average income of individuals.
However, the growth of this market can be hindered by stringent regulatory policies, the high cost of ATTR drugs, incorrect diagnosis of ATTR disorders, and limitation of clinical trials.Regional AnalysisAmericas is a global leader in the market for transthyretin amyloidosis owing to the increasing prevalence of amyloidosis among adults and older population and rising geriatric population which is a major trigger factor for this disease.
Additionally, established medical device market and capability of inhabitants to afford the diagnostics are aiding the market growth.
On the basis of a report that was published by the United Nations in 2015; between 2015 and 2030, the number of older people aged 60 years or over in the world is predicted to grow by 56 %, out of which 66% of the older population would reside in Asia-Pacific regions.
This makes the region prone to transthyretin amyloidosis as chances of its prevalence increases with increasing age.
