|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were no meaningful differences in PK exposure, serum transthyretin reduction, and efficacy (change from baseline in modified Neuropathy Impairment Score+7) across all subgroups analyzed (age, sex, race, body weight, genotype status of valine-to-methionine mutation at position 30 [V30M] and non-V30M, prior use of tetramer stabilizers, mild/moderate renal impairment, and mild hepatic impairment). transthyretin reduction and efficacy were similar across the interpatient PK exposure range for ALN-18328.
|
31322739 |
2020 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations.
|
30478886 |
2019 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Both LT and tafamidis therapy modified the natural history of hATTR V30M by reducing neuropathy progression.
|
29924456 |
2018 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Neurological function was assessed using the Neuropathy Impairment Score - Lower Limbs (NIS-LL) in three cohorts: Val30Met tafamidis (n = 64), Val30Met placebo (n = 61) and non-Val30Met tafamidis (n = 21).
|
29115008 |
2018 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy.
|
27878441 |
2017 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
The relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) total score was assessed in 61 (stages 1-3) patients with TTR-FAP (V30M variant) and 16 healthy controls.
|
27422379 |
2017 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP).
|
28393570 |
2017 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
A total of 31 transthyretin-familial amyloidosis patients (19 mean age, 49 ± 12 years; 26 with the Val30Met mutation) underwent a T<sub>1</sub> mapping cardiac magnetic resonance study and a neurological evaluation with Neuropathy Impairment Score of the Lower Limb score, Norfolk Quality of Life questionnaire, and Karnofsky index.
|
27291669 |
2016 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis.
|
23225390 |
2012 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, clinicians should consider the possibility of FAP ATTR Val30Met in patients presenting with neuropathy of undetermined etiology to avoid misdiagnosis.
|
21463231 |
2011 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms.
|
20132088 |
2010 |
|
Neuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Transthyretin (TTR) familial amyloid polyneuropathy is a severe autosomal dominant neuropathy of adulthood, frequently linked to the pathogenic Val30Met variant of the TTR gene.
|
18460047 |
2008 |