Vutrisiran Shows Sustained Clinical Benefit in East Asian ATTR-PN Vutrisiran produced consistent improvements in neuropathy impairment, quality of life, walking speed, and disability in patients with ATTR-PN, per a recent study.

East Asian patients with ATTR-PN treated with #Vutrisiran achieve meaningful improvements in neuropathy impairment, quality of life, walking speed, and disability despite higher baseline disease burden and prior #Tafamidis use.

Read more: https://bit.ly/4tgDp38

#RareDisease #ATTRPN #NeuroSky

Structural Homogeneity a Hallmark of Cardiac, Mixed Phenotypes in ATTR ATTR fibrils caused by the T60A TTR gene variant have a single morphology but high compositional homogeneity, according to recent research.

Transthyretin amyloid (#ATTR) fibrils caused by the T60A TTR gene variant, which is associated with a mixed cardiac (#ATTRCM) and neuropathic (#ATTRPN), have a single morphology across patients and tissues. Study in Structure.

Read more: https://bit.ly/3M7nbsM

#RareDisease #Cardiology

The p.Val142Ile Variant Seems to Be Linked to a Milder ATTR-PN Phenotype The p.Val142Ile variant appears to be associated with a milder ATTR-PN phenotype than previously thought, a study found.

The p.Val142Ile variant appears to be associated with a milder transthyretin amyloid polyneuropathy (ATTR-PN) phenotype than previously thought. Study in Neurology Genetics. @aanmember.bsky.social

Read here: https://bit.ly/4h7eTg6

#RareDisease #ATTRPN #pVal142lle #Neurology #RareSky #MedSky

Platelets Play a Key Role in MG Pathogenesis A new study supports the notion that activated platelets play a key role in the pathogenesis of myasthenia gravis (MG).

#LiverTransplantation and treatment with disease-modifying therapies significantly improve survival in patients with hereditary variant transthyretin amyloidosis, which can lead to cardiomyopathy (#ATTRCM) and polyneuropathy (#ATTRPN). @jinternmed.bsky.social

Read more: https://bit.ly/48j6jZt

Trial Results Support Use of Patisiran in ATTR-PN Patisiran treatment showed a consistent positive effect across several endpoints in patients with a V122I or T60A variant-associated ATTR-PN.

#Patisiran treatment showed consistent positive effect across several endpoints, including #Polyneuropathy manifestations in patients with a #V122I or #T60A variant in the #TTR gene, in a multicenter phase 4 #ClinicalTrial

Read more: https://bit.ly/48CO8hm

#RareDisease #ATTRPN #MedSky