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…
A 60-year-old man with familial amyloid polyneuropathy (FAP), and quickly progressing nerve damage and heart disease, was found to carry a rare mutation in the TTR gene, a recent case report details. He responded well to treatment with Vyndaqel (tafamidis, by Pfizer), the medical team reported. The…
Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant is not beneficial, according to a new study. The research, “Pacemaker implantation in familial amyloid polyneuropathy: when and for whom?,” was published in the…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…