Fat accumulation in the soleus muscle, a large muscle of the lower leg, may be indicative of disease progression in people with hereditary transthyretin (ATTRv) amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP), a small study in China suggests. The study, “Skeletal Muscle Involvement Pattern of…
Early signs of swallowing difficulties and carpal tunnel syndrome may serve as biomarkers for familial amyloid polyneuropathy (FAP) patients carrying the Ala97Ser (A97S) mutation, a study suggests. According to researchers, these factors may help identify A97S patients who might benefit from early treatment. The study, “Unique Phenotypes With…
Switching to Onpattro (patisiran) following liver transplant and treatment with tafamidis lessened persistent disease progression in a patient with severe familial amyloid polyneuropathy (FAP), a case study reports. The man carried a rare mutation in the TTR gene — the most common cause of FAP — therefore, further studies…
A skin biopsy may help speed up the diagnosis of familial amyloid polyneuropathy (FAP), including for asymptomatic people with disease-causing mutations who are at higher risk of developing full-blown disease, according to a single-center retrospective study. This would allow patients, especially those with the Val30Met mutation, to receive treatment…
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…
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…
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…
Attralus has raised $116 million to support the clinical development of AT-01, its diagnostic imaging agent for systemic amyloidosis, a group of rare conditions that includes familial amyloid polyneuropathy (FAP). Proceeds from the Series B financing will also be used to develop therapeutic agents for different forms of systemic…
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in grants, totaling up…
Alnylam Pharmaceuticals has initiated testing of a twice a year dosing regimen for vutrisiran, its investigational RNA-targeted therapy for familial amyloid polyneuropathy (FAP) and other forms of ATTR amyloidosis. The new dosing regime is being added to the open-label extension phase of the ongoing Phase 3 HELIOS-A trial (NCT03759379) that is now underway…