Author Archives: Iqra Mumal, MSc

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…

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…

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…

The annual costs and disease burden associated with hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN), also known as familial amyloid polyneuropathy (FAP), are considerable but within the range of other rare diseases, a Portuguese study shows. The study, titled “Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy,” was published recently…

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…

The U.S. Food and Drug Administration has granted approval to Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, for the treatment of adults with hereditary transthyretin-mediated amyloidosis (hATTR), also called familial amyloid polyneuropathy (FAP). Along with approval in the U.S., Tegsedi was also approved in Canada this month and in the…

Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, has been granted approval in Canada as a treatment for stage 1 or stage 2 polyneuropathy in adults with hereditary transthyretin (hATTR) amyloidosis, also called familial amyloid polyneuropathy (FAP). This announcement comes at about the same time as Tegsedi’s…

Alnylam Pharmaceuticals announced the submission of a New Drug Application (NDA) to Japan’s Pharmaceuticals and Medical Devices Agency (PMDA) for  the approval of patisiran as a treatment for hereditary transthyretin-mediated (hATTR) amyloidosis. hATTR amyloidosis, also known as familial amyloid polyneuropathy (FAP), is caused by mutations in the TTR gene. It…

The European Commission (EC) has approved Tegsedi (inotersen), by Akcea Therapeutics and Ionis Pharmaceuticals, to treat stage 1 or 2 polyneuropathy in adults with hereditary transthyretin amyloidosis (hATTR). The approval — in the form of marketing authorization — comes on the heels of a positive recommendation by the…