Early diagnosis and prompt treatment with Vyndaqel (tafamidis) may help halt neurological disease progression in familial amyloid polyneuropathy (FAP) patients who are positive for the Val30Met mutation, clinical analyses of three trials suggest. The study “Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
Familial amyloid polyneuropathy patients with the Val30Met mutation differ in clinical symptoms, gene variants, and age of disease onset between endemic (where the disease is common) and non-endemic areas of Japan, a study reveals. In the study, “Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in…
Familial amyloid polyneuropathy (FAP) with arm (upper limb) involvement is common in France and frequently missed because of incorrect diagnosis, a French study reported. This study, “Upper Limb Onset of Hereditary Transthyretin Amyloidosis is common in Non‐Endemic Areas” was published in the European Journal Of Neurology. FAP, or…
A woman diagnosed with late-onset familial amyloid polyneuropathy (FAP) showed severe sensory and motor neuropathy, or nerve damage, as well as eye and cardiac impairments, a case report describes. The report, “Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in…
Researchers have reported the first case of familial amyloid polyneuropathy (FAP) with chronic dry cough — caused by a less common mutation — in a large Chinese family. The case report, “Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with…
Liver transplant or therapy with Pfizer‘s Vyndaqel (tafamidis) can substantially extend the lives of people with familial amyloid polyneuropathy (FAP) in early stages of the disease, a Portuguese study has shown. The study, one of the…
Familial amyloid polyneuropathy (FAP) patients who carry the Val30Met mutation experience loss of sensation (numbness), especially sense of touch pressure, rather than heat pain or thermal sensibility, in both their arms and legs, a study has found. The study, “Kind and distribution of cutaneous sensation loss in hereditary…
The distortion and subsequent atrophy of cells in the peripheral nervous system, due to the accumulation and lengthening of amyloid fibrils, may be behind nerve cell loss in patients with familial amyloid polyneuropathy (FAP), a study reports. Researchers also identified dot-like structures outside cells that looked like the precursors…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…