People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Familial amyloid polyneuropathy (FAP) patients carrying the Val30Met mutation are more frequently misdiagnosed and tend to have neurologic and cardiac complications more commonly if they have the late-onset form of the disease, according to a study of Brazilian patients. The research, “Late-onset hereditary ATTR…
Variants in two genes involved in the body’s immune response and inflammation were associated with age-of-onset of symptoms in Portuguese families with familial amyloid polyneuropathy (FAP), due to the common Val30Met mutation, a study shows. The study, “C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients,” was published…
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…
Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the same safety profile over two years of treatment, results of an open-label extension study show. A greater efficacy of the treatment was seen…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…
Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of familial amyloid polyneuropathy (FAP). The case was described by researchers from the U.K. in the study, “Spinal Stenosis in Familial Transthyretin Amyloidosis,” published…
Variability in the onset and penetrance of TTR-related amyloidosis (ATTR) among members of the same family may be linked to the expression of different copies of the TTR gene throughout the aging process, a study suggests. The study, “Monoallelic expression of the TTR gene as a contributor to…
Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) caused by Val30Met and other mutations, but does not prevent progression of nerve damage, or neuropathy, in most patients, a three-year follow-up…
Liver transplants can significantly prolong survival in familial amyloid polyneuropathy (FAP) patients, and the longer they must wait for the transplant may mean the disease will worsen after the procedure. Those findings come from the study “Liver Transplantation for Familial Amyloid Polyneuropathy (Val30Met): Long-Term Follow-up Prospective Study…