David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…
Changes in the way that people with a certain gene mutation walk could help doctors make an early determination that they have a neurodegenerative condition known as familial amyloid polyneuropathy, a study reports. A TTR mutation is a hallmark of transthyretin familial amyloid polyneuropathy, one of a number of versions of familial amyloid polyneuropathy. The…
This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…
Japanese experts have developed guidelines for treating people in their country with transthyretin familial amyloid polyneuropathy that are different from other countries’ guidelines. That’s because TTR-FAP manifests itself differently in Japanese than in people elsewhere. It has a broader range of symptoms in Japanese patients, for example. The guidelines are…
While Vyndaqel (tafamidis) has been shown to improve symptoms of familial amyloid polyneuropathy (FAP), it likely does not protect against anemia — a common problem among patients with the disease, a small Japanese study found. The data suggests that physicians may need to pay attention not only to patients’ neurological…
Alnylam Pharmaceuticals and Sanofi have dissolved the partnership they formed to develop and market two treatments for the neurological disease familial amyloid polyneuropathy, or FAP. The change is aimed at streamlining the development of patisiran and ALN-TTRsc02, Alnylam said in a press release. The two drugs are RNAi treatments. This means…
The U.S. Food and Drug Administration (FDA) has agreed to speedily review Ionis Pharmaceuticals’ application to get its investigational drug inotersen approved as a treatment for hereditary TTR amyloidosis (hATTR). The application has been granted Priority Review status, shortening the review process from 10 to six months. The FDA…
The artificial induction of joint ossification, or surgical arthrodesis, is a safe and effective option to treat patients with rare knee structural deformities due to Charcot neuroarthropathy secondary to familial amyloid polyneuropathy (FAP), according to a case report. FAP represents a heterogeneous group of hereditary diseases caused by…
A combination of three tests that measure upper limb nerve damage and sensitivity to stimuli could help doctors distinguish between transthyretin familial amyloid polyneuropathy (TTR-FAP) and similar conditions, a study reports. Because TTR-FAP treatments are most effective when done early, the tests can improve patients’ chance of a better outcome, the…
An assessment of the global prevalence of familial amyloid polyneuropathy, caused by mutations in the transthyretin (TTR) gene, gave a similar count to that estimated in earlier studies. But the uppermost number in its range — that of 38,468 affected people — was notably higher. That upper estimate, in the study funded…