Science AI Journal
Biochemistry, Genetics and Molecular Biology · Research topic

Open research questions in Amyloidosis: Diagnosis, Treatment, Outcomes

107 unresolved questions extracted from the limitations and future-work sections of 326 Amyloidosis: Diagnosis, Treatment, Outcomes papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • further studies are needed to investigate the disparity in diagnosis and treatment of ATTR-CM in women, - research on the prevalence of ATTR-CM among women is necessary, - investigation of the relationship between socioeconomic factors and ATTR-CM is needed

    Sex differences in amyloid transthyretin cardiomyopathy National Amyloidosis Centre staging at diagnosis: an analysis from a large single-center cohort · 2026 · DOI

  • Sex differences in phenotype, treatment response, and long-term outcomes remain poorly understood. The prevalence of the disease among women is likely higher than currently recognized. There is a need to evaluate potential confounding and sex-specific associations in ATTR-CM.

    Sex differences in amyloid transthyretin cardiomyopathy National Amyloidosis Centre staging at diagnosis: an analysis from a large single-center cohort · 2026 · DOI

  • The challenges include the need for a treatment that can reduce cardiac amyloid burden and improve disease-related biomarkers and quality of life. The study also faces challenges in measuring cardiac amyloid burden and disease-related biomarkers. The paper mentions the challenge of high inter- and intrapatient variability in the data.

    Cliramitug for depletion of cardiac amyloid transthyretin: long-term follow-up of the NI006-101 trial · 2026 · DOI

  • High rate of atrial fibrillation resulted in missing data, - Limited to a subgroup of participants of the NI006-101 trial, - No control group for comparison

    Cliramitug for depletion of cardiac amyloid transthyretin: long-term follow-up of the NI006-101 trial · 2026 · DOI

  • The role of TTR gene silencers with background TTR stabilizer therapy is unknown. The effects of silencer treatment in the absence of stabilizer use are unclear.

    Eplontersen with and without background transthyretin stabilizers in transthyretin amyloid cardiomyopathy: secondary analysis of a phase 3, randomized controlled trial · 2026 · DOI

  • In the absence of head-to-head trials, practical guidance for individual treatment decisions is lacking.

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

  • Management of ventricular arrhythmias remains individualized due to limited evidence.

    Sustained Ventricular Tachycardia as the First Presentation of Hereditary Transthyretin Amyloidosis With the Glu109Gln Mutation · 2026 · DOI

  • Discussion: This case highlights VT as a rare initial presentation of ATTR-CM and emphasizes the limited evidence guiding the management of ventricular arrhythmias and the role of ICDs in these patients.

    Sustained Ventricular Tachycardia as the First Presentation of Hereditary Transthyretin Amyloidosis With the Glu109Gln Mutation · 2026 · DOI

  • In spite of the progress, the regulatory mechanisms for these diverse functions of SAA remain unclear.

    Recent Advances in Studies of Serum Amyloid A: Implications in Inflammation, Immunity and Tumor Metastasis · 2025 · DOI

  • Background Right ventricular–pulmonary arterial (RV–PA) uncoupling in cardiac amyloidosis (CA) has been underexplored, with focus mainly on tricuspid annular plane systolic excursion (TAPSE)/pulmonary artery systolic pressure (PASP).

    Prognostic implications of right ventricular to pulmonary artery uncoupling in cardiac amyloidosis · 2025 · DOI

  • Ser43Asn variant, which has been associated with amyloidosis involving thyroxine-binding globulin (TBG), is scarcely reported in the literature, especially within the Chinese population.

    Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China · 2025 · DOI

  • Prompt plasma cell-directed therapy aimed at eliminating the culprit plasma cell clone, such as autologous stem cell transplantation or systemic chemotherapy, is warranted to improve clinical outcomes in AL amyloidosis myopathy and in some patients with SLONM, whereas immunomodulatory therapy may be beneficial in patients with scleromyxedema-associated myopathy, MGGSM, and SLONM.

    Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy–Associated Myopathies · 2025 · DOI

  • Although the pathogenesis of MGAMs is not well understood, an underlying immune-mediated mechanism likely contributes to most subtypes, except in AL amyloidosis myopathy, where tissue amyloid deposition and direct light chain toxicity are believed to play a central role.

    Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy–Associated Myopathies · 2025 · DOI

  • The exact prevalence of ATTRwt in the general population remains unclear, but its occurrence may be underestimated in women.

    Neuromuscular manifestations of wild type transthyretin amyloidosis: a review and single center’s experience · 2024 · DOI

  • However, left bundle branch pacing in patients with amyloid light-chain cardiac amyloidosis has not been studied in detail.

    Case Report: Left bundle branch pacing in an amyloid light-chain cardiac amyloidosis patient with atrioventricular block · 2024 · DOI

  • It remains unclear why thromboembolic events occur even in patients with sinus rhythm or adequate anticoagulation, though a hypercoagulable state or underlying inflammation may be involved.

    Cryptogenic ischemic stroke in cardiac transthyretin amyloidosis and sinus rhythm: a case report · 2024 · DOI

  • Background Cardiac systolic dysfunction is a poor prognostic marker in light-chain (AL) cardiomyopathy, a primary interstitial disorder; however, its pathogenesis is poorly understood.

    Mechanisms of left ventricular systolic dysfunction in light chain amyloidosis: a multiparametric cardiac MRI study · 2024 · DOI

  • This population of patients is increasingly being identified as having concomitant cardiac amyloidosis, which is an underrecognized cause of common cardiac conditions.

    A wolf in sheep's clothing—aortic stenosis and cardiac amyloidosis: “RAISE”ing awareness in clinical practice · 2024 · DOI

  • The study had a small sample size of 10 patients. The study did not include a placebo group. The follow-up period was limited to 72 weeks.

    Clinical safety and tolerability of in vivo gene editing drug ART001 for ATTR amyloidosis · 2026 · DOI

  • There is a need for durable solutions for ATTR amyloidosis. Current treatments have limitations, and there is a lack of effective therapies for this rare disease.

    Clinical safety and tolerability of in vivo gene editing drug ART001 for ATTR amyloidosis · 2026 · DOI

  • The rarity of AL amyloidosis with extensive extramedullary lymph node involvement. The need for effective treatment options for patients with AL amyloidosis.

    Case Report: Autologous stem cell transplantation in a patient diagnosed with AL amyloidosis in Kazakhstan · 2026 · DOI

  • The mechanism of acquired factor X deficiency in AL amyloidosis is not fully understood - Direct demonstration of tissue FX sequestration and its relationship to circulating FX activity remains limited

    Factor X colocalizes with amyloid light chain deposits in AL amyloidosis: evidence from three patients · 2026 · DOI

  • A limitation of our case report is the absence of endomyocardial biopsy and cardiac MRI, the latter not performed due to the patient’s deranged renal function tests (serum creatinine 2.3 mg/dL). Despite this, comprehensive echocardiographic evaluation revealing the characteristic ‘‘cherry-on-top’’ GLS pattern (−9.7% initially, deteriorating to −1.9%) combined with supportive clinical findings (refractory heart failure, LVH in a normotensive patient) and renal biopsy confirmation of AL amyloidosis provided sufficient diagnostic certainty for cardiac involvement. This non invasive multimodal approach aligns with studies demonstrating that such assessments often negate the need for invasive endomyocardial biopsy in systemic AL amyloidosis with strong imaging evidence, as shown by Aljama et al. where NT-proBNP plus echocardiography diagnosed cardiac involvement in most patients without requiring biopsy18. What we have learned? Clinicians should maintain a high index of suspicion for cardiac amyloidosis in patients with multiple myeloma presenting with heart failure and unexplained left ventricular hypertrophy. Global longitudinal strain should be routinely incorporated into echocardiographic assessment in this population, as the characteristic apical sparing pattern provides an important noninvasive diagnostic clue. Serial GLS evaluation is a practical tool for monitoring disease progression and prognostication. Early identification of cardiac involvement and close collaboration between cardiology and hematology teams are essential to guide management and improve outcomes. REFERENCES [1] Falk RH, Alexander KM, Liao R, Al DS. Light-chain cardiac amyloidosis: A review of diagnosis and therapy. J Am Coll Cardiol. 2016;68(12):1323–1341. [2] Kumar S, Dispenzieri A, Lacy MQ, et al. Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol. 2012;30(9):989–995. doi: 10.1200/JCO.2011.38.5724. [3] Merlini G, Dispenzieri A, Sanchorawala V, et al. Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers. 2018;4(1):38. doi: 10.1038/s41572-018-0034-3. [4] Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, Klarich KW, Miller WL, Maleszewski JJ, Dispenzieri A. Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system. J Am Coll Cardiol. 2016;68(10):1014–1020. [5] Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types: Disease profiles and clinical courses of the 3 main types. Circulation. 2009;120(13):1203–1212. doi: 10.1161/CIRCULATIONAHA.108.843334. [6] Phelan D, Collier P, Thavendiranathan P, et al. Relative apical sparing of longitudinal strain using two- dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart . 2012;98(19):1442–1448. doi: 10.

    Cardiac amyloidosis presenting as refractory heart failure: Role of GLS in diagnosis and on follow up · 2026 · DOI

  • The lack of subtype-specific information in the registry data. The potential for under-recognition of cases, particularly in regions with lower detection rates. The need to address regional disparities in disease diagnosis and treatment.

    Geographical Disparities in the Detection and Certification of Systemic Amyloidosis in Japan ― A Nationwide Registry Analysis, 2015–2024 ― · 2026 · DOI

  • Future research should investigate the underlying causes of the geographical disparities in systemic amyloidosis. Studies should examine the impact of regional differences in disease diagnosis and treatment on patient outcomes.

    Geographical Disparities in the Detection and Certification of Systemic Amyloidosis in Japan ― A Nationwide Registry Analysis, 2015–2024 ― · 2026 · DOI

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

Most recent work

Find a gap in your own Amyloidosis: Diagnosis, Treatment, Outcomes sub-topic

This page shows what the Amyloidosis: Diagnosis, Treatment, Outcomes literature already flags as unresolved. To narrow it to your specific question, run the guided finder — it searches the gap library on demand and checks candidates against 250M+ OpenAlex works.

Open the Research Gap Finder →

Related topics in Biochemistry, Genetics and Molecular Biology

Gut microbiota and health
1,024 open questions
Single-cell and spatial transcriptomics
602 open questions
Genetic Associations and Epidemiology
393 open questions
Antibiotic Resistance in Bacteria
360 open questions
Inflammatory Bowel Disease
353 open questions
Extracellular vesicles in disease
305 open questions
Mitochondrial Function and Pathology
296 open questions
Human-Animal Interaction Studies
294 open questions
107 open questions have been extracted from the limitations and future-work passages of 326 Amyloidosis: Diagnosis, Treatment, Outcomes papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

Tools for your next paper

Gaps & Literature SearchFind open questions in any field — 120,000+ open gaps mined from our own library.Pre-CheckIs your paper ready? A Tier 1–5 acceptance probability in seconds.Journal FinderA ranked shortlist of target journals from a 17,500-venue index.Duplicate Publication CheckerCheck prior-publication & salami-slicing risk across 8 sources.Citation GeneratorFreeA DOI or title → APA, MLA, Vancouver, Chicago, BibTeX, RIS. No signup.Graphical Abstract MakerFreeTurn your findings into a colorblind-safe graphical abstract.

Compare the category — Honest roundups of the AI research tools, ours listed alongside the alternatives.

Command palette

Jump anywhere, run any action.