EAN 2023<\/a><\/em>.<\/p>\nTranscript<\/strong><\/p>\nI\u2019m Luca Leonardi from Sapienza University in Sapienza University Hospital.<\/span><\/p>\n1. What are the current unmet needs in the diagnosis and identification of hereditary transthyretin amyloidosis with polyneuropathy? (00:12)<\/span><\/strong><\/p>\nI<\/span><\/span> think<\/span><\/span><\/span> that<\/span><\/span> there<\/span><\/span> is<\/span><\/span> a<\/span><\/span> great<\/span><\/span> increase<\/span><\/span> in<\/span><\/span> the<\/span><\/span> sensibility<\/span><\/span> of<\/span><\/span> diagnosing<\/span><\/span> ATTRv<\/span><\/span> because<\/span><\/span> there<\/span><\/span> are<\/span><\/span> available<\/span><\/span> treatments<\/span><\/span> which<\/span><\/span> are<\/span><\/span> effective. We have a lot of tools to diagnose it, but the unmet need, I think, is the follow-up of the asymptomatic carrier. And we need biomarkers that are sensitive enough to detect changes in the disease onset. Because it\u2019s hard to say something \u2013 sometimes it\u2019s hard to say if there is something going on in asymptomatic carriers and when is the right time to start the treatment in this kind of setting. So we need strong biomarkers in asymptomatic carriers right now.<\/span><\/span><\/p>\n2. Please provide an overview of the rational and main aims of your study (01:00)<\/span><\/strong><\/p>\nThe aim is to investigate the role of skin biopsy in symptomatic subjects and asymptomatic carriers, as a tool to detect a small nerve fibre degeneration as well as amyloid deposition. In order to use these two things as biomarkers of disease progression and disease onset.<\/span><\/p>\n3. What was the methodology and study design? (01:23)<\/span><\/strong><\/p>\nThe<\/span><\/span><\/span> study<\/span><\/span> is<\/span> quite<\/span> simple,<\/span> we<\/span> just<\/span> consecutively<\/span> evaluated<\/span> the<\/span> carriers<\/span> and<\/span> the<\/span> patients<\/span> in<\/span> the<\/span> federal<\/span> centre,<\/span> who<\/span> underwent<\/span> skin<\/span> biopsy,<\/span> and<\/span> we<\/span> collected<\/span> this<\/span> data<\/span> over<\/span> decades.<\/span>. The work is simple because it\u2019s just standard histology, in particular, Congo red for the amyloid deposition and the validated immunofluorescence technique for small nerve fibres. Also staining \u2013 and we correlate it with the clinical variables that are quite simple too. For example, PMD, which is a disability scale and the NIS, which is another scale well used abroad for the evaluation of these patients.<\/p>\n4. What were the key findings and results? (02:10)<\/span><\/strong><\/p>\nI found that there is a large when we use skin biopsy as a tool to detect amyloid deposition, there is a very high prevalence of amyloid deposition since the earliest stages of the disease. And so when the disease starts, we can find amyloids in skin, which is quite a valuable tissue \u2013 minimal invasive biopsy, then we can perform on these kind of patients. And so this is a tool that we can use to detect the onset of the disease while the skin, the innervation is something that well correlates with disability and disease duration. So probably it\u2019s more a marker of disease progression than we can use during a lead to evaluate the patient or the carrier. We perform a follow-up taking the two \u2013 we can decide \u2013 we can take a decision about what\u2019s going on in these patients or this carrier.<\/span><\/p>\n5. What conclusions can be made, and are there any further studies planned? (03:12)<\/span><\/strong><\/p>\nIn conclusion, we can say that skin biopsy as a tool to detect small fibre damage and the amyloid position is a useful tool to be implemented in the follow-up of asymptomatic TTRV patients. It\u2019s a quite simple technique that is available abroad. And provides useful information to take the decision about the start of the treatments, which are quite effective if started early. Right<\/span><\/span> now,<\/span><\/span> we<\/span> are<\/span> focusing<\/span> on<\/span> the<\/span> asymptomatic<\/span> population<\/span> because<\/span> it\u2019s<\/span> the<\/span> mostly<\/span> testing<\/span> phase<\/span> of<\/span> the<\/span> disease,<\/span> and<\/span> we<\/span> are<\/span> focusing<\/span> here<\/span> in<\/span> Italy<\/span> on<\/span> screen<\/span> biopsy<\/span> correlated<\/span> with<\/span> quantitative<\/span> sensory<\/span> testing<\/span> in<\/span> a<\/span> longitudinal<\/span> study,<\/span> which<\/span> I<\/span> hope<\/span> very<\/span> soon<\/span> will<\/span> provide<\/span> some<\/span> interesting<\/span> data<\/span> about<\/span> the<\/span> evolution<\/span> of<\/span> sensory<\/span> profiling<\/span> and<\/span> skin<\/span> innervation<\/span><\/span> in<\/span> this<\/span> population.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"Dr Luca Leonardi (Sapienza University of Rome, Italy) summarizes the take-home messages from his study assessing skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease. The abstract \u2018EJoN: Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary […]<\/p>\n","protected":false},"featured_media":63142,"template":"","class_list":["post-63137","media_gallery","type-media_gallery","status-publish","has-post-thumbnail","hentry","vocabulary_1-neuromuscular-diseases","video_categories-ean-highlights"],"acf":[],"_links":{"self":[{"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media_gallery\/63137","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media_gallery"}],"about":[{"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/types\/media_gallery"}],"version-history":[{"count":29,"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media_gallery\/63137\/revisions"}],"predecessor-version":[{"id":72562,"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media_gallery\/63137\/revisions\/72562"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media\/63142"}],"wp:attachment":[{"href":"https:\/\/touchneurology.com\/wp-json\/wp\/v2\/media?parent=63137"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}