A new study has revealed that Black women who carry the transthyretin (TTR) V122I variant, a common variant in patients with hereditary transthyretin amyloidosis (hATTR), are at greater risk of cardiovascular disease (CVD) and all-cause mortality than noncarriers. The study, published in the Journal of the American College of Cardiology: Heart Failure, found the times…
Neurologic and cardiac characteristics associated with hereditary transthyretin amyloidosis (hATTR) variants that are common in the US, including V122I, L58H, and late-onset V30M, have been explored in a study published in Neurology. The researchers conducted a retrospective case series of patients diagnosed with hATTR between January 2008 and January 2020. Of 56 patients with treatment-naive…
The presence of the TTR V30M variant affects the expression of members of the S100 family of calcium-binding proteins, thus likely contributing to the impaired immune response in patients with hereditary transthyretin amyloidosis (hATTR), according to a study published in Amyloid. The study was conducted by a research team from Portugal who found decreased levels…
DALLAS, Texas—Since 2017, the US Food and Drug Administration (FDA) has approved 12 gene therapies—including 5 in 2022 alone—compared to none less than a decade ago. That’s an indication of how quickly the gene therapy pipeline has evolved, a top FDA official pointed out. Peter Marks, MD, PhD, director of the FDA’s Center for Biologics…
A new prospective, case-control study will investigate the use of 18F-fluoride positron emission tomography (PET) for monitoring tafamidis treatment response in patients with cardiomyopathy associated with hereditary transthyretin amyloidosis (hATTR). The study is currently recruiting. The researchers plan to enroll 140 participants with cardiac hATTR, cardiac light chain amyloidosis, or hypertrophic cardiomyopathy. All patients must…
A new study has evaluated inotersen’s ability to slow neuropathic progression, as assessed by the Neuropathy Impairment Score (NIS), in patients with hereditary transthyretin amyloidosis (hATTR). The study, published in BMC Neurology, also estimated responder definition thresholds for the NIS and NIS lower limb subscale (NIS-LL) to reflect the clinically meaningful benefit of inotersen therapy…
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Federico Stella, MD, on the controversial practice of severely restricting the diets of patients who have just undergone stem cell transplants. Read the full story here: Italian Hematologist Urges End to ‘Useless’ Restrictive Diets After Stem Cell Transplants
The US Food and Drug Administration (FDA) has accepted for review a New Drug Application (NDA) for eplontersen, a novel medicine for the treatment of patients with polyneuropathy linked to hereditary transthyretin amyloidosis (hATTR), Ionis Pharmaceuticals announced. The application has been granted a Prescription Drug User Fee Act action date of December 22, 2023. The…
Recruiting is underway for a single-center prospective clinical trial evaluating iodine-124 evuzumitide (124I-evuzumitide) in patients with systemic amyloidosis, of which hereditary transthyretin amyloidosis (hATTR) is a form. The trial aims to “identify and characterize the distribution and uptake of 124I-evuzumitide in patients with transthyretin amyloid cardiomyopathy (ATTR-CM)” and correlate 124I-evuzumitide uptake with the structure and…
Periorbital purpura has been described as a presenting sign in a patient with hereditary transthyretin amyloidosis (hATTR). The case report is published in Annals of Internal Medicine: Clinical Cases. Amyloidosis is associated with deposits of misfolded precursor protein into extracellular tissues in the body, leading to organ dysfunction. Among more than 30 different amyloidogenic proteins,…
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