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Open research questions in Amyloidosis: Diagnosis, Treatment, Outcomes

454 gap statements mined from Amyloidosis: Diagnosis, Treatment, Outcomes papers in our 7.9M-paper local library, which holds 2,320 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • Although treatment options for pulmonary ATTR amyloidosis have not yet been established, corticosteroid-responsive pulmonary involvement may present as organizing pneumonia in patients with ATTR amyloidosis.

    Organizing Pneumonia in a Patient with Pulmonary Transthyretin Amyloidosis · 2026 · DOI

  • The gaps that matter most are practical. There is no comparative evidence on rate versus rhythm control in ATTR-CM, and no data to guide antiarrhythmic selection beyond the general preference for amiodarone. Ablation requires prospective study of patient selection, timing, and safety, with the periprocedural heart failure risk measured rather than inferred.

    Atrial fibrillation in transthyretin amyloid cardiomyopathy: marker of disease severity and implications for multidomain reassessment · 2026 · DOI

  • This highlights the need for further research into CNS dysfunction in this population, particularly given the lack of approved therapies with demonstrated efficacy in the CNS.

    Central nervous system manifestations in hereditary transthyretin amyloidosis: a cross-sectional study with 151 patients · 2026 · DOI

  • Second, although all patients had biopsy-proven ATTRwt-CA, a direct segmental correlation between tracer uptake and histopathological amyloid burden was not performed; therefore, the precise relationship between PET indices and regional amyloid deposition remains uncertain.

    Head-to-head comparison of 11C-PiB and 18F-flutemetamol PET in transthyretin cardiac amyloidosis · 2026 · DOI

  • The main limitation of this study is its relatively small sample size, due to the rareness of ATTRwt.

    Longitudinal multimodal assessment of peripheral nerve involvement in wild-type transthyretin amyloidosis · 2026 · DOI

  • Although the pharmacokinetic properties of DOACs might differ from those of warfarin, the extent to which these characteristics interact with amyloid-related microvascular abnormalities remains incompletely understood and warrants further investigation.

    Atrial Fibrillation in Cardiac Amyloidosis: A Multicenter Experience Comparing Novel Oral Anticoagulants and Warfarin · 2026 · DOI

  • Emerging techniques may extend both reach and access: amyloid-binding PET tracers allow direct quantification of myocardial amyloid burden and could identify AL involvement, for which no equivalent to bone scintigraphy currently exists, while photon-counting detector CT combines spectral tissue characterisation, coronary assessment and lower radiation exposure within a single examination.

    Imaging Cardiac Amyloidosis: From Early Diagnosis to Risk Stratification and Evaluation of Treatment Efficacy · 2026 · DOI

  • Although these findings may be useful to predict kidney outcomes, their role in guiding treatment decisions despite hematological response remains uncertain [ 21 ].

    Delayed kidney response in AL amyloidosis: prevalence and clinical significance · 2026 · DOI

  • The prevalence of Danon disease in the general population remains uncertain; however, it accounts for approximately 4% of childhood hypertrophic cardiomyopathy cases (6) and up to 17% of cases featuring left ventricular hypertrophy with pre-excitation syndrome (7).

    Two young women with severe Danon disease initially suspected to have cardiac amyloidosis: a case report and literature review · 2026 · DOI

  • To overcome these challenges, we have developed machine learning models that accurately predict ALCA status while identifying key diagnostic features based on routine laboratory measurements and using limited data.

    Computational alternative to cardiac biopsy in multiple myeloma: utilizing the shape of routine laboratory data for the classification of AL cardiac amyloidosis · 2026 · DOI

  • The study faced challenges in terms of the small sample size and the limited follow-up duration. The paper also notes the challenges in interpreting the results, given the complex and multifactorial nature of cardiac amyloidosis. The study highlights the need for further research to fully understand the relationship between left atrial mechanics, functional capacity, and key clinical markers in cardiac amyloidosis.

    Enhancing prognostic evaluation in cardiac amyloidosis: PALS, GLS and functional tests beyond KCCQ · 2026 · DOI

  • Diagnosis and treatment of CA are the two main challenges in managing CA. There is a critical lack of data looking at optimal diagnosing and treatment of CA. Guidelines have been equivocal when addressing this topic owing to the lack of data. Fortunately, trials are under way to explore novel options for diagnosing CA.

    Cardiac Amyloidosis: Tribulations and New Frontiers · 2025 · DOI

  • Despite their transformative potential, iPSC-based models for ACM face several intrinsic limitations that must be acknowledged when interpreting results or designing experiments. A major challenge lies in the developmental immaturity of iPSC-CMs. These cells, even after extended culture duration or within 3D constructs, retain a fetal- or neonatal-like phenotype in multiple dimensions.

    Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery · 2025 · DOI

  • Whether the observed benefits persist over longer follow-up, including sustained improvement in EF, reverse remodeling, and survival, remains to be determined. A key limitation of this study is the absence of systematic CMR data or endomyocardial biopsy, which precluded assessment of myocardial fibrosis and viable cardiomyocyte burden.

    Efficacy of Contractility Modulation Therapy in Patients with Transthyretin Amyloid Cardiomyopathy, Mildly Reduced to Reduced EF and NYHA III and IV: A Multicentric, Prospective Pilot Study for AMY-CCM Registry · 2025 · DOI

  • Limited research has been conducted on the use of HF medication in this specific patient group, which complicates putting the numbers found in perspective.

    Trends in Conventional Heart Failure Therapy in a Real-World Multinational ATTR-CA Cohort · 2025 · DOI

  • Future studies should focus on both early- and late-stage patients to provide the best supportive care with conventional heart failure treatment next to the more expensive disease-modifying drugs. The conflicting evidence on the relationship between HF therapy use, intolerance, and mortality in ATTR-CA highlights the need for further research to identify subgroups of patients who may benefit from these therapies.

    Trends in Conventional Heart Failure Therapy in a Real-World Multinational ATTR-CA Cohort · 2025 · DOI

  • One of the key limitations of this study is the relatively small sample size, which may constrain the generalizability of the findings and reduce the power to detect more subtle or nuanced differences between groups.

    Subclinical Cardiac Involvement in Asymptomatic ATTR Mutation Carriers: Insights from Cardiac MRI, Myocardial Strain, and Mapping Techniques · 2025 · DOI

  • Patisiran has not been approved by the FDA or Health Canada to treat patients who have only ATTR-CM, but patisiran could be explored to see whether it would be an effective treatment for patients with this phenotype as well. A study on evaluating the effectiveness of inotersen at alleviating the symptoms of CM by analyzing the results of the PYP scan of patients with ATTR with a mixed phenotype could be explored.

    Comparative Study on Cardiac Findings in Patients with Transthyretin Amyloidosis Before and After Treatment with a Transthyretin Silencer · 2025 · DOI

  • Its independent contribution to mortality remains uncertain; its clinical relevance lies in symptoms, heart failure events, rhythm-related instability, and thromboembolic risk.

    Atrial fibrillation in transthyretin amyloid cardiomyopathy: marker of disease severity and implications for multidomain reassessment · 2026 · DOI

  • A relevant limitation of this study is the inclusion of variables such as bone scintigraphy, cardiac uptake, and biopsy findings, which may represent confirmatory or late-stage diagnostic features rather than early clinical red flags.

    The role of “red flags” in the diagnostic work-up of hereditary transthyretin amyloidosis: a study using a machine-learning approach · 2026 · DOI

  • Eplontersen Eplontersen is an antisense oligonucleotide (GalNAc-conjugated) that reduces hepatic TTR production—similar to the second-generation siRNA vutrisiran. Use of eplontersen is based on subcutaneous injections of 45 mg eplontersen every 4 weeks. Eplontersen is approved for adult patients with stage I and II ATTRv PN. Importantly, eplontersen is not approved for the treatment of ATTR-CM yet.

    Specific treatment of ATTR-CM in Germany—expert consensus of the German Society of Amyloid Diseases (DGAK) and German Cardiac Society (DGK) · 2026 · DOI

  • Although adverse events reported in the current LA literature were minimal, the available evidence is largely limited to case reports and may underrepresent treatment-related toxicity.

    Advances in the management of lichen amyloidosis: from immunomodulators to procedural interventions · 2026 · DOI

  • Since the publication of the ATTR-ACT trial, few studies have analysed treatment decisions in a real-life setting.

    Current treatment decisions in cardiac transthyretin amyloidosis: a multicentre analysis · 2026 · DOI

  • Establish correct diagnosis (cardiac imaging fulfilling criteria for amyloid cardiomyopathy + exclusion of monoclonal gammopathy + bone scintigraphy including SPECT or histopathologic confirmation) Early diagnosis and early initiation of specific therapy to achieve best possible benefit Screen for potential extracardiac manifestations and comorbidities Patients with ATTR-CM should be treated with tafamidis…

    Specific treatment of ATTR-CM in Germany—expert consensus of the German Society of Amyloid Diseases (DGAK) and German Cardiac Society (DGK) · 2026 · DOI

  • Examining the relationship between myocardial and atrial strain and HRQoL in other cardiac conditions, - Investigating the prognostic value of echocardiographic parameters in CA, - Analyzing longitudinal changes in echocardiographic, functional capacity, or quality-of-life parameters, - Studying the relationship between left atrial mechanics and functional capacity in other…

    Enhancing prognostic evaluation in cardiac amyloidosis: PALS, GLS and functional tests beyond KCCQ · 2026 · DOI

Most-cited papers in Amyloidosis: Diagnosis, Treatment, Outcomes

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Open questions raised by papers listed on this page include: (1) Although treatment options for pulmonary ATTR amyloidosis have not yet been established, corticosteroid-responsive pulmonary involvement may present as organizing pneumonia in patients with ATTR amyloidosis (“Organizing Pneumonia in a Patient with Pulmonary Transthyretin Amyloidosis”, 2026); (2) There is no comparative evidence on rate versus rhythm control in ATTR-CM, and no data to guide antiarrhythmic selection beyond the general preference for amiodarone (“Atrial fibrillation in transthyretin amyloid cardiomyopathy: marker of disease…”, 2026); (3) This highlights the need for further research into CNS dysfunction in this population, particularly given the lack of approved therapies with demonstrated efficacy in the CNS (“Central nervous system manifestations in hereditary transthyretin amyloidosis:…”, 2026); (4) There is a critical lack of data looking at optimal diagnosing and treatment of CA (“Cardiac Amyloidosis: Tribulations and New Frontiers”, 2025); (5) Whether the observed benefits persist over longer follow-up, including sustained improvement in EF, reverse remodeling, and survival, remains to be determined (“Efficacy of Contractility Modulation Therapy in Patients with Transthyretin…”, 2025). 454 gap statements have been mined from Amyloidosis: Diagnosis, Treatment, Outcomes papers in our 7.9M-paper local library, which holds 2,320 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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