The case of a 17-year-old boy who experienced the first symptoms of familial amyloid polyneuropathy (FAP) before the age of 3, calls attention to the possibility of pediatric cases of the disease that require special diligence for timely diagnosis and treatment. The case report, “Extremely Early Onset…
Vyndaqel (tafamidis) increases the stability of the transthyretin protein and may help people with familial amyloidosis polyneuropathy (FAP) carrying a TTR gene mutation common in Asian populations, an early study from Taiwan suggests. …
As early detection and management of gastrointestinal (GI) disturbances is key in familial amyloid polyneuropathy (FAP), gastroenterologists should be part of a multidisciplinary team to treat these patients, a study suggests. The research, “Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis,” was published in the journal…
Noninvasive imaging techniques may be helpful for identifying and monitoring eye problems in familial amyloid polyneuropathy (FAP), a study shows. Titled “Multimodal retinal imaging of familial amyloid polyneuropathy,” the study was published in Ophthalmic Genetics. FAP is caused by misfolding of the protein transthyretin (TTR), which then…
Genetic sequencing can help to diagnose familial amyloid polyneruopathy (FAP) in people diagnosed with neuropathy of unknown origin — and sequencing is more reliable than biopsies for diagnosis, the results of a recent study suggest. The study, titled “Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
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,…