Urinary and sexual problems are highly prevalent in people with familial amyloid polyneuropathy (FAP) and should be tackled by a comprehensive and multidisciplinary management plan to prevent further complications and improve quality of life, a review study contends. The study, “Diagnosis and treatment of urinary…
Akcea Therapeutics’ next-generation antisense medicine AKCEA-TTR-LRx (ION-682884) — currently in development for the treatment of all forms of familial amyloid polyneuropathy (FAP) — reduces the levels of a key FAP protein in healthy volunteers, a Phase 1 trial found. Some participants…
Alexion Pharmaceuticals has obtained exclusive rights in Japan to develop and market AG10, an oral treatment candidate for familial amyloid polyneuropathy (FAP), also called ATTR polyneuropathy (ATTR-PN). AG10 is a small molecule developed by Eidos Therapeutics, a subsidiary of BridgeBio Pharma. It is intended to address the root…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
The lower levels of a protein called cathepsin E, upon activation of a type of white blood cells called macrophages, in mice with familial amyloid polyneuropathy (FAP) suggest a role of this protein in cell-mediated immunity. That discovery may help explain the impaired macrophage function in this disease, according…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Tegsedi (inotersen) and Onpattro (patisiran) are both effective treatments to stop the progression of familial amyloid polyneuropathy (FAP), alleviate gastrointestinal symptoms, and improve patients’ overall quality of life, a review study has found. The study, “Novel RNA-targeted…
The Ala97Ser mutation is the most common variant found on the TTR gene that has been associated with familial amyloid polyneuropathy (FAP) in Chinese-Malaysian patients, a study says. The findings of the study, “Ala97Ser mutation is common among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy,” were…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…