Publications by authors named "Plante-Bordeneuve V"
Article Synopsis
- The study focuses on transthyretin cardiac amyloidosis (ATTR-CM) as a significant cause of heart failure in older patients, analyzing how age and amyloidosis subtype affect patient outcomes.
- It included 943 patients, revealing that geriatric patients (≥75 years) had worse health outcomes and lower 3-year survival rates (55%) compared to non-geriatric patients (<75 years) who had a survival rate of 76%.
- Key mortality predictors differed by age group, with geriatric patients relying on alkaline phosphatase and troponin T levels, while non-geriatric patients linked outcomes to NT-proBNP and glomerular filtration rates; a new 3-stage prognostic
Background And Purpose: Peripheral neuropathy is a frequent complication of brentuximab vedotin (BV), used in CD30+ lymphoma treatment. Classic BV-induced neuropathy (BV-CN) is a mild distal sensory axonal polyneuropathy. Severe BV-induced inflammatory neuropathies (BV-IN) have been described.
View Article and Find Full Text PDFVutrisiran: a new drug in the treatment landscape of hereditary transthyretin amyloid polyneuropathy.
Expert Opin Drug Discov
April 2024
Introduction: Hereditary transthyretin (ATTRv) amyloidosis is a progressive, fatal disorder caused by mutations in the transthyretin (TTR) gene leading to deposition of the misfolded protein in amyloid fibrils. The main phenotypes are peripheral neuropathy (PN) and cardiomyopathy (CM).
Areas Covered: Gene silencing therapy, by dramatically reducing liver production of TTR, has transformed ATTRv-PN patient care in the last decade.
Article Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) has two forms: wild-type (ATTRwt) and hereditary (ATTRv), with over 130 identified genetic variants affecting patient symptoms.
- This analysis looked at four less common genetic variants (F64L, I68L, I107V, S77Y) in symptomatic patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) to better understand their demographic and clinical characteristics.
- Findings revealed that most participants were older males, with distinct symptoms where F64L, I107V, and S77Y had more neurological issues, while I68L showed significant heart problems, highlighting the need for thorough patient evaluations across
Article Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) is a serious, progressive disease caused by the buildup of transthyretin amyloid fibrils in the body's tissues and organs, and can be hereditary or wild-type.* -
- The Transthyretin Amyloidosis Outcomes Survey (THAOS) is a major global study launched in 2007 that has tracked over 6,000 patients, including symptomatic patients and asymptomatic carriers, providing important data on the disease's characteristics.* -
- The recent analysis from THAOS revealed that most symptomatic patients are male, with a shift toward more mixed phenotypes and less predominantly cardiac phenotypes, highlighting the disease's complexity and variability among
Background: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up.
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- Early diagnosis of cardiac amyloidosis (CA) is crucial for effective treatment, but it is often overlooked, misdiagnosed, and poorly managed.
- A retrospective study over 11 years analyzed 3,022 patients referred for suspected CA, showing a significant increase in referrals and a shift towards wild-type transthyretin amyloidosis (ATTRwt) being the most common diagnosis.
- The findings indicate that while awareness among cardiologists has grown, leading to more diagnoses of ATTRwt and less severe cases, patients with amyloid light chain (AL) amyloidosis still frequently present with severe cardiac symptoms.
In genetic diseases with variable age of onset, an accurate estimation of the survival function for the mutation carriers and also modifying factors effects estimations are important for the management of asymptomatic gene carriers across life. Among the modifying factors, the gender of the parent transmitting the mutation (i.e.
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- The study aimed to validate the Amylo-AFFECT-QOL questionnaire to measure health-related quality of life (HR-QoL) in patients with cardiac amyloidosis (CA), as no specific questionnaire existed for this condition.
- It involved 515 patients, primarily those diagnosed with CA, and showed that the Amylo-AFFECT-QOL scores significantly correlated with established HR-QoL assessments, indicating its reliability.
- Findings revealed that those with cardiac amyloidosis had worse HR-QoL scores compared to other conditions, and higher scores were associated with increased mortality or heart transplant risk after one year.
Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease'risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation.
Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil.
Background: Cardiac and neurological involvements are the main clinical features of hereditary transthyretin (ATTRv) amyloidosis. Few data are available about ATTRv amyloid nephropathy (ATTRvN).
Methods: We retrospectively included 30 patients with biopsy-proven ATTRvN [V30M (26/30) including two domino liver recipients, S77Y (2/30), V122I (1/30) and S50R (1/30) variants] from two French reference centers.
Article Synopsis
- Hereditary transthyretin amyloidosis (hATTR/ATTRv) is caused by the buildup of misfolded transthyretin protein, affecting peripheral nerves, and inotersen has shown promise in treating the associated polyneuropathy, according to the NEURO-TTR study results.
- The study included patients from Europe and North America who participated in a long-term open-label extension study, focusing on various efficacy measures like the modified Neuropathy Impairment Score and quality of life assessments while also monitoring safety.
- Results indicated that a significant proportion of patients improved or maintained their neurological function over time, with 39 patients who initially received a placebo showing notable progress
Article Synopsis
- The study evaluated vutrisiran, an RNA therapy aimed at reducing transthyretin (TTR) production, in patients with hereditary transthyretin (ATTRv) amyloidosis affecting the nerves.
- The phase 3 HELIOS-A trial involved 164 patients, comparing vutrisiran (administered every 3 months) to patisiran (administered every 3 weeks) and an external placebo group, assessing various health outcomes over 18 months.
- Results showed that vutrisiran led to significant improvements in neuropathy scores and quality of life compared to placebo, with a good safety profile and no serious drug-related complications.*
Article Synopsis
- The study examined renal function in 232 adult patients with hereditary transthyretin (ATTRv) amyloidosis at a French center, revealing a significant prevalence of chronic kidney disease (CKD) in this group.
- Older age and a history of hypertension were linked to a higher likelihood of CKD, while better heart function as indicated by left ventricular strain was associated with a lower prevalence.
- Over 24 months, patients showed a significant decline in estimated glomerular filtration rate (eGFR), with rates of decline varying based on age and specific genetic variants, suggesting ongoing kidney issues among those with ATTRv amyloidosis.
Unlabelled: Heart transplantation in cardiac amyloidosis (CA) patients is possible and generally considered for transplantation if other organs are not affected. In this study, we aimed to describe and assess outcome in patients following heart transplantations at our CA referral center.
Methods: We assessed all CA patients that had heart transplantations at our center between 2005 and 2018.
Article Synopsis
- Transthyretin amyloidosis (ATTR amyloidosis) is a serious disease caused by the buildup of transthyretin amyloid fibrils in organs like the heart and nerves.
- The Transthyretin Amyloidosis Outcomes Survey (THAOS), established in 2007, is the largest ongoing study tracking both symptomatic patients and asymptomatic gene carriers to understand the disease better.
- The analysis included 5,609 participants and revealed that most symptomatic patients are male with a mean onset age of 56.3 years, while asymptomatic carriers are generally younger, highlighting the variant genotypes and clinical presentations across different regions.
Article Synopsis
- Three new drugs have been approved for treating amyloid transthyretin (ATTR) amyloidosis, offering new options for hereditary and wild-type cases.
- These drugs target key processes in the amyloid buildup and include gene silencers to suppress both wild-type and mutant TTR, expanding treatments for conditions like cardiac amyloidosis.
- Expert guidelines suggest therapeutic strategies based on current drugs, but ongoing clinical trials may significantly alter treatment options in the future.
Introduction: A significant number of patients with a peripheral neuropathy have IgM monoclonal gammopathy (IgM-MG). In this work, we encompassed the spectrum and outcome of IgM-related neuropathies (IgM-NP) in a large monocentric cohort of patients with IgM-MG.
Methods: We retrospectively reviewed the neurological and hematological findings and the course of neuropathy in all patients with IgM-MG over a five-year period in our center (Henri Mondor hospital, Assistance Publique Hôpitaux de Paris (APHP), France).
Article Synopsis
- - Autonomic dysfunction affects 40.4% of symptomatic patients with transthyretin amyloidosis (ATTR), occurring more frequently in those with the inherited variant (ATTRv) compared to the wild-type (ATTRwt).
- - Patients with ATTRv experience autonomic dysfunction symptoms much sooner (averaging 3.4 years) than those with ATTRwt (averaging 9.7 years).
- - While autonomic dysfunction significantly reduces quality of life in ATTRv patients, it does not appear to have the same impact in ATTRwt patients, as their quality of life scores are similar regardless of dysfunction presence.
Objectives: Our aim was to evaluate the ability of magnetic resonance neurography (MRN) of the lumbo-sacral plexus (LSP) to distinguish patients with hereditary transthyretin-related amyloidosis with polyneuropathy (ATTRv-PN) from asymptomatic variant carriers (AVC) and healthy controls and to assess its prognostic value.
Methods: Three-Tesla MRN was performed in 25 consecutive ATTRv-PN patients, 18 AVC, and 10 controls including T2-w DIXON and DWI MR sequences. Two blinded readers independently assessed LSP root diameter and intraneural signal on the MRN images of each subject.
Hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis, is a progressive disease, for which liver transplantation (LT) has been a long-standing treatment. However, disease progression continues post-LT. This Phase 3b, open-label trial evaluated efficacy and safety of patisiran in patients with ATTRv amyloidosis with polyneuropathy progression post-LT.
View Article and Find Full Text PDFBackground: Amyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis.
View Article and Find Full Text PDFBackground: Neurological complications of systemic lupus erythematosus (SLE) are wide and may rarely involve the peripheral nervous system. However, no case of meningoradiculitis has been well-detailed.
Methods: We report a patient with lupus-associated meningoradiculitis.