Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. 20 webinar. William Whitman…
The European Commission (EC) has approved the once-daily oral medication Vyndaqel (tafamidis) for the treatment of cardiomyopathy — a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body — in adults with transthyretin…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
The V122I gene mutation, found primarily in people of African descent with hereditary transthyretin amyloidosis (ATTR), is associated with heart failure in individuals of African or Hispanic/Latino descent, a study found. The study, “Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
A nuclear imaging technique called 99mTc-DPD scintigraphy can be used to distinguish different subtypes of amyloidosis, including familial amyloid polyneuropathy (FAP), according to a new study. The study, “99mTc-DPD scintigraphy and SPECT/CT in patients with AL and ATTR type amyloidosis: Potential clinical implications,” was published in the journal…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
The protein cathepsin E — known for regulating immune system cells — may be a potential biomarker for familial amyloid polyneuropathy (FAP), a study suggests. Specifically, researchers found that the protein was present at comparatively low levels in the macrophages — a type of immune cells —…
Diagnosing hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy, also called familial amyloid polyneuropathy (FAP), is challenging, particularly in in places where the disease is less prevalent, researchers say. A high level of suspicion on the part of the physician is required to diagnose patients as early as possible, according…
People with a type of FAP caused by a Ser77Tyr mutation are more likely to develop conjunctival lymphangiectasia, an uncommon clinical condition characterized by swelling of the conjunctiva — the clear tissue covering the white part of the eye and the inside of the eyelids, a recent…