Author Archives: Marta Figueiredo PhD

Long-term treatment with Tegsedi (inotersen) helps preserve quality of life in people with familial amyloid polyneuropathy (FAP) for up to three years, according to data from the Phase 3 NEURO-TTR trial and its extension study. While patients initially assigned to a placebo stopped experiencing declines in quality of…

Patient enrollment is complete for the Phase 3 NEURO-TTRansform trial testing Ionis Pharmaceuticals’ eplontersen in adults with familial amyloid polyneuropathy (FAP). The trial exceeded its enrollment target of 140 participants, with Ionis now expecting to register more than 160 patients in the study. “The speed of enrollment…

A single dose of Intellia Therapeutics’ investigational CRISPR/Cas9-based gene-editing therapy NTLA-2001 safely results in a rapid and strong reduction in the levels of the damaging transthyretin (TTR) protein, according to interim data from the first six familial amyloid polyneuropathy (FAP) patients given the therapy in a Phase…

Attralus’ imaging agent AT-01 was able to detect amyloid deposits in the heart, even in patients without heart symptoms and with normal levels of a heart damage biomarker, according to data from a Phase 1/2 clinical trial. The imaging agent was also able to distinguish between patients with…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Vutrisiran, a second-generation RNA interference (RNAi) therapy candidate, safely and effectively reduces neurologic impairment and improves physical function and quality of life in adults with familial amyloid polyneuropathy (FAP). That’s according to top-line, nine-month data from the global HELIOS-A Phase 3 trial. Alnylam Pharmaceuticals, Vutrisiran’s developer, plans…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Eidos Therapeutics announced that the Phase 3 clinical trial evaluating its lead candidate acoramidis (formerly known as AG10) in treating adults with transthyretin amyloidosis cardiomyopathy (ATTR-CM) is fully enrolled. Top-line results from part A of the trial, called ATTRibute-CM (NCT03860935), are expected in late 2021 or early 2022, and from…

A single dose of NTLA-2001, Intellia Therapeutics’ investigational gene editing therapy for transthyretin amyloidosis (ATTR), results in a sustained reduction in the levels of the damaging transthyretin (TTR) protein for at least one year, according to preclinical data. Based on these promising data in non-human primates,…

The characteristic toxic buildup of mutant transthyretin (TTR) protein clumps in familial amyloid polyneuropathy (FAP) affects the development of nerve cell fibers by interacting with regulators of a protein called actin, according to a study in a fruit fly model of the disease. The data suggested that…