The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
Treatment with Vyndaqel (tafamidis) is a safe, non-invasive way to delay neurologic progression of transthyretin familial amyloid polyneuropathy (TTR-FAP), and preserves patients’ nutritional status and quality of life, a review study shows. The study, “Tafamidis, a Noninvasive Therapy for Delaying Transthyretin Familial Amyloid Polyneuropathy: Systematic Review…
Cardiac problems are the leading cause of death among transthyretin familial amyloid polyneuropathy (ATTR, also called FAP) patients who have had a liver transplant, according to a retrospective longitudinal study. The study, “Cause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneurophathy,”…
Length of naturally occurring repeats in the sequence of the ATXN2 gene may affect the age of onset of transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). The study, “Large normal alleles of ATXN2 decrease age-at-onset in TTRFAP Val30Met patients,” was published in the journal Annals of Neurology.
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…