A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Switching to Onpattro (patisiran) following liver transplant and treatment with tafamidis lessened persistent disease progression in a patient with severe familial amyloid polyneuropathy (FAP), a case study reports. The man carried a rare mutation in the TTR gene — the most common cause of FAP — therefore, further studies…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
A skin biopsy may help speed up the diagnosis of familial amyloid polyneuropathy (FAP), including for asymptomatic people with disease-causing mutations who are at higher risk of developing full-blown disease, according to a single-center retrospective study. This would allow patients, especially those with the Val30Met mutation, to receive treatment…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Vutrisiran, an experimental therapy for familial amyloid polyneuropathy (FAP), continued to safely alleviate neurologic impairments and overall disability over 18 months of treatment, according to new data from the ongoing Phase 3 HELIOS-A trial. Those being given the therapy, administered as an under-the-skin injection once every three months,…
The U.S. Food and Drug Administration (FDA) granted orphan drug status to eplontersen, an investigational therapy that seeks to prevent the buildup of toxic protein deposits in people with transthyretin (ATTR) amyloidosis — a group of disorders that also includes familial amyloid polyneuropathy (FAP). The therapy is being co-developed…
The toxic transthyretin (TTR) clumps that form in people with familial amyloid polyneuropathy (FAP) caused by Val30Met, the most common disease-causing mutation, are structurally different in the eye and the heart, a study suggests. These findings highlight the structural variability of TTR clumps between organs, even when associated with…
A man with familial amyloid polyneuropathy (FAP) developed eye problems years after he was found to have an uncommon disease-causing mutation called ATTRD18E, according to a case report from Canada. Abnormal findings included vitreous opacities, or eye floaters, and retinal angiopathy — a condition in which blood vessels at…