The U.S. Food and Drug Administration (FDA) granted orphan drug status to eplontersen, an investigational therapy that seeks to prevent the buildup of toxic protein deposits in people with transthyretin (ATTR) amyloidosis — a group of disorders that also includes familial amyloid polyneuropathy (FAP). The therapy is being co-developed…
The toxic transthyretin (TTR) clumps that form in people with familial amyloid polyneuropathy (FAP) caused by Val30Met, the most common disease-causing mutation, are structurally different in the eye and the heart, a study suggests. These findings highlight the structural variability of TTR clumps between organs, even when associated with…
A man with familial amyloid polyneuropathy (FAP) developed eye problems years after he was found to have an uncommon disease-causing mutation called ATTRD18E, according to a case report from Canada. Abnormal findings included vitreous opacities, or eye floaters, and retinal angiopathy — a condition in which blood vessels at…
MRI scans of pelvis and leg muscles may serve as a marker of progression and treatment response in people with hereditary transthyretin (ATTRv) amyloidosis, a group of conditions that also includes familial amyloid polyneuropathy (FAP), a small Italian study suggests. The study, “Muscle MRI as a…
The vagus nerve, the longest cranial nerve running from the brain through to the abdomen, is wider in people with familial amyloid polyneuropathy (FAP) than in people without the disease, a small study in China found. Researchers also observed that its dimensions, measured by ultrasound imaging, correlated with the…
The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…
Ionis Pharmaceuticals has entered into a collaboration agreement with AstraZeneca to develop and commercialize eplontersen, Ionis’ investigational therapy to treat transthyretin amyloidosis (ATTR). ATTR amyloidosis is a group of conditions characterized by the formation of toxic aggregates or clumps of the TTR protein that build up in…
Heart involvement is more prevalent among men with hereditary transthyretin (ATTRv) amyloidosis, a group of rare disorders that includes familial amyloid polyneuropathy (FAP), a study reports. Findings suggest that female sex may be protective against heart disease in ATTRv, and that being male may also contribute to disease worsening. The…
A clinical trial of the gene-editing therapy NTLA-2001 in people with familial amyloid polyneuropathy (FAP) is expanding to include those with a related condition, called ATTR amyloidosis with cardiomyopathy (ATTR-CM), Intellia Therapeutics, which is developing the therapy, reported. FAP is a form of ATTR amyloidosis — a group of disorders…
Protego Biopharma has raised $51 million to support the development of therapies for diseases caused by protein misfolding, such as familial amyloid polyneuropathy (FAP). The series A financing was co-led by Lightspeed Venture Partners, Vida Ventures, and MPM Capital. As part of the financing, representatives from these three…