Author Archives: Joana Carvalho

Although less able to form damaging protein deposits, the E61K variant of transthyretin appears to cause familial amyloid polyneuropathy (FAP) through other mechanisms, a study suggested. The study, “A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy,” was published in the Journal…

Blood levels of neurofilament light chain (NfL) — a protein commonly used as a marker of nerve cell death in neurodegenerative disorders — associate with the severity of peripheral nerve damage (polyneuropathy) in people with familial amyloid polyneuropathy (FAP), a study reports. In fact, NfL seems to be…

Alnylam Pharmaceuticals announced a potential new biannual dosing regimen for vutrisiran, its investigational treatment for familial amyloid polyneuropathy (FAP) and other forms of ATTR amyloidosis. In its “RNAi Roundtable” webinar, the company also stated that it remains on track to announce top-line data from HELIOS-A…

The Portuguese Medicine Regulatory Authority, known as Infarmed, has added Tegsedi (inotersen) — an approved treatment for stage 1 or 2 polyneuropathy in adults with familial amyloid polyneuropathy (FAP) — to the list of reimbursed medications for patients living in Portugal. Tegsedi now will be the…

Spain’s Ministry of Health has added Tegsedi (inotersen), an injection  treatment for stage 1 or 2 polyneuropathy in adults with familial amyloid polyneuropathy (FAP), to the national list of prescription medicines that patients are reimbursed for using. With this decision, Tegsedi will be the first at-home…

The U.S. Food and Drug Administration (FDA) has granted fast track designation to Alnylam Pharmaceuticals’ vutrisiran as a potential treatment of adults with familial amyloid polyneuropathy (FAP). Fast track is intended to accelerate the development and review of investigational therapies aimed at treating serious or life-threatening conditions, and…

Sudoscan, a device that evaluates sweat gland function, may help physicians improve the diagnosis of familial amyloid polyneuropathy — distinguishing these patients from those with chronic inflammatory demyelinating polyneuropathy, a study says. The study, “Quantitative sudomotor test helps differentiate Transthyretin familial amyloid polyneuropathy from Chronic…

Akcea Therapeutics and Ionis Pharmaceuticals announced the launch of a Phase 3 clinical trial evaluating the safety and efficacy of AKCEA-TTR-LRx (ION-682884) for the treatment of adults with familial amyloid polyneuropathy (FAP). The global, open-label, randomized NEURO-TTRansform trial (NCT04136184) is expected to start in December.

Akcea Therapeutics’ next-generation antisense medicine AKCEA-TTR-LRx (ION-682884) — currently in development for the treatment of all forms of familial amyloid polyneuropathy (FAP) — reduces the levels of a key FAP protein in healthy volunteers, a Phase 1 trial found. Some participants…

Tegsedi (inotersen) and Onpattro (patisiran) are both effective treatments to stop the progression of familial amyloid polyneuropathy (FAP), alleviate gastrointestinal symptoms, and improve patients’ overall quality of life, a review study has found.  The study, “Novel RNA-targeted…