A new clinical trial called TRAM aims to determine the prevalence of genetic mutations in the transthyretin (Ttr) gene, the underlying cause of TTR familial amyloid polyneuropathy (TTR-FAP). The trial (NCT03237494) is for adult patients with polyneuropathy disease or cardiomyopathy of unknown causes and is currently recruiting participants. Mutations…
An imaging technique that uses tiny amounts of radioactive chemicals can help doctors predict the outcomes of cases of familial amyloid polyneuropathy, according to a Portuguese study. The research also demonstrated that a liver transplant can stabilize FAP patients’ heart conditions. The University of Lisbon study was published in the journal…
In the largest registry worldwide for a common subtype of familial amyloid polyneuropathy, known as FAP ATTRV30M, researchers identified six genes variants that influence the age at which disease symptoms become evident in a person and that may point the way to new treatments. The study, “Familial amyloid polyneuropathy…
Doctors reported the case of a man with late-onset familial amyloidotic polyneuropathy (FAP) with heart complications. The team’s analysis of the case prompted its members to call for early diagnosis of patients to prevent mortality due to FAP. The study, titled “Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria…
Patients with familial amyloid polyneuropathy (FAP) are in a constant pro-inflammatory state, with increased levels of interleukin-6 (IL-6) driven by a mutated form of the protein transthyretin (TTR), which characterizes this disease. These findings were featured in a study published in the journal Scientific Reports. FAP is caused…
Magnetic resonance neurography can detect nerve lesions associated with the most common form of familial amyloid polyneuropathies, or FAPs, a study reports. It dealt with lesions stemming from transthyretin familial amyloid polyneuropathy, also known as TTR-FAP. Magnetic resonance neurography, or MRN, is the direct imaging of nerves. It is a modification of magnetic…
A skin sample might aid physicians in diagnosing patients with familial amyloid polyneuropathy (FAP) caused by mutations in the TTR gene, according to a study that showed that amyloid deposits, which cause nerve disease in these patients, are also present in the skin. In addition to sparing patients more invasive…
The investigative drug inotersen was shown to significantly reduce neurological progression and improve quality of life in patients with familial amyloid polyneuropathy (FAP) – also referred to as hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). These findings resulted from the Phase 3 NEURO-TTR study (NCT01737398), and were subject of a…
The age at which symptoms of familial amyloid polyneuropathy (FAP) start showing up may be influenced by other genetic factors, according to a study that assessed genetic variation in a large number of patients.