FAP Neuropathy and Emerging Treatments

Adams, David; Théaudin, Marie; Cauquil, Cécile; Algalarrondo, Vincent; Slama, Michel

doi:10.1007/s11910-013-0435-3

Cited by 64 publications

(61 citation statements)

References 49 publications

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“…However, its prevalence is widely believed to be under-estimated because diagnosis of ATTR-FAP is confounded by the non-specific nature of symptoms and a lack of disease awareness [8,9]. A more recent review suggests that ATTR-FAP prevalence may in fact range from 5526 to 38,468 people worldwide [10].…”

Section: Introductionmentioning

confidence: 99%

Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years

Barroso

Judge

Ebede

et al. 2017

Amyloid

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Background: The objective of the present study was to evaluate the long-term safety and efficacy of tafamidis in treating hereditary transthyretin amyloid polyneuropathy. Methods: A prospectively planned interim analysis was conducted on an on-going, phase III, open-label extension study following an 18-month, randomized, controlled study and 12-month, open-label extension study in ATTRV30M patients and a single-arm, open-label study in non-ATTRV30M patients. Thirtyseven ATTRV30M patients received placebo for 18 months, then switched to tafamidis and 38 ATTRV30M patients and 18 non-ATTRV30M patients continuously received tafamidis from day 1, up to 6 years. Results: Long-term tafamidis was associated with a favourable safety/tolerability profile, without any unexpected adverse events. Patients initiating tafamidis at the start of the randomized study had less polyneuropathy progression versus those switching to tafamidis following 18 months of placebo and were less likely to progress to the next ambulatory stage after up to 6 years follow-up. In the patients who switched from placebo to tafamidis, polyneuropathy progression and deterioration in quality of life slowed significantly during long-term tafamidis treatment as compared with the previous placebo treatment. In non-ATTRV30M patients, some polyneuropathy progression was observed across all efficacy measures. Conclusions: These data provide evidence for the long-term (up to 6 years) safety and efficacy of tafamidis. ClinicalTrials.gov: NCT00925002

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Section: Introductionmentioning

confidence: 99%

Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years

Barroso

Judge

Ebede

et al. 2017

Amyloid

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“…More than 2000 patients underwent LT worldwide. More recently, various therapeutic approaches have been developed in TTR-FAP as an alternative to LT, some resulting in clinical trials and marketing authorization [10]. Peripheral neuropathy may also be encountered in acquired AL amyloidosis [11] and in recipients of TTR-FAP liver [12].…”

Section: Abstract: Antisense Oligonucleotides • Diflunisal • Familialmentioning

confidence: 99%

Current and future treatment of amyloid neuropathies

Adams¹,

Cauquil²,

Théaudin³

et al. 2014

Expert Review of Neurotherapeutics

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Amyloid neuropathies of acquired or genetic origin are disabling and life-threatening, until recently there were few treatment options available. Poor prognosis is related to progressive neuropathy and associated, although often underdiagnosed, cardiac involvement in specific transthyretin (TTR) gene mutations. Recent progress has modified prognosis and management of amyloid neuropathies. In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments. Liver transplantation, first performed in 1990, stopped disease progression, thus doubling survival in early onset V30M patients. More recently tetramer stabilizers (Tafamidis and Diflunisal) showed a significant reduction of progression of neuropathic scores; Tafamidis is now recommended in Stage I patients. Two multicentric clinical trials are now ongoing to evaluate TTR gene silencing by antisense Oligonucleotides (ASO) or siRNA. In the near future we should have new therapeutical options for patients with amyloid neuropathy.

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“…Four monomers come together to form the tetramer structure of the protein. TTR loses its stable structure as a result of mutations in the TTR gene and transforms into undissolved amyloid fibrils (3). More than 120 mutations have so far been identified that cause this autosomal dominant inherited disease (4).…”

Section: Introductionmentioning

confidence: 99%