Treatment with Vyndaqel (tafamidis) or liver transplant can significantly improve the long-term outcome of patients with familial amyloid polyneuropathy (FAP) due to a common TTR mutation, researchers reported. FAP, also known as transthyretin-related hereditary amyloidosis (hATTR), is a rare disease caused by genetic mutations in the…
A series of potential predictors for identifying patients with familial amyloid polyneuropathy (FAP) and distinguishing it from other diseases with similar symptoms, namely chronic inflammatory demyelinating polyneuropathy (CIDP), were recently found through a retrospective analysis. The study, “Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy,” was published in…
Researchers reported a rare case of familial amyloid polyneuropathy (FAP) in a patient with TRR gene Val30Met mutation who was experiencing impaired upper limb sensation and numbness. The case was described in “A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of…
A parameter called electrochemical skin conductance is linked to disease severity in patients with familial amyloid polyneuropathy (FAP), potentially supporting the use of a device called Sudoscan to assess the clinical evolution of the disease, according to researchers. Their study, “The value of electrochemical skin conductance measurement using…
Blood vessel abnormalities in the eye’s structures are common features in patients with familial amyloid polyneuropathy (FAP) caused by the Val30Met genetic mutation, according to researchers. Their study, “Angiographic signatures of the predominant form of familial transthyretin amyloidosis (Val30Met mutation),” was published in the American…
As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
The European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) has recommended the approval of Tegsedi (inotersen) as a treatment for Stage 1 or 2 polyneuropathy in adults with hereditary transthyretin amyloidosis (hATTR), also known as familial amyloid polyneuropathy (FAP). The announcement comes from Akcea Therapeutics and…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Vyndaqel (tafamidis) failed to prevent the progressive accumulation of abnormal transthyretin protein in a patient with a rare variant of familial amyloid polineuropahy (FAP), also known as transthyretin amyloidosis, according to a case report. The case was reported in the study, “Failure of Tafamidis to Halt Progression…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…