FAP News Today

May 16, 2022May 16, 2022

Genetic Screening for Mutations May Help in Early Diagnosis, Treatment

FAP News Today

A seven-year genetic screening program in Bulgaria involving people at high risk of hereditary transthyretin amyloidosis — a group of conditions that also includes familial amyloid polyneuropathy (FAP) — found patients ... Read more

May 9, 2022May 9, 2022

2nd Part Launches in Phase 1 Trial of Gene-editing Therapy NTLA-2001

FAP News Today

The first patient has been dosed in the second part of a Phase 1 trial evaluating NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy for people with familial amyloid polyneuropathy (FAP) and ... Read more

May 5, 2022May 5, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

FAP News Today

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

May 2, 2022May 2, 2022

TTR Gene Variant Linked to Heart Failure in Black People in US

FAP News Today

A genetic variant in TTR — the gene implicated in familial amyloid polyneuropathy (FAP) — was linked with a greater risk of heart failure and death among Black people living ... Read more

April 25, 2022April 25, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

FAP News Today

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 18, 2022April 18, 2022

Real-world Study: Tegsedi Slows FAP Progression, Preserves Life Quality

FAP News Today

In a real-world study of patients with worse disease severity at the start of treatment, Tegsedi (inotersen) slowed the progression of hereditary transthyretin amyloidosis — a group of disorders that ... Read more

April 13, 2022April 13, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, FAP News Today

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 11, 2022April 11, 2022

FDA Pushes Decision on Vutrisiran to July After Packaging Site Issues

FAP News Today

The U.S. Food and Drug Administration (FDA) is extending by three months its review timeline for vutrisiran, an experimental therapy for familial amyloid polyneuropathy (FAP) developed by Alnylam Pharmaceuticals. A decision, ... Read more

April 4, 2022April 4, 2022

Small Vesicles in Blood Contribute to Toxic TTR Protein Buildup in FAP

FAP News Today

Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP), a study shows. These ... Read more

March 28, 2022March 28, 2022

New Compound Score May Help Screen for TTR Genetic Testing

FAP News Today

A highly sensitive tool has been developed to help identify patients with familial amyloid polyneuropathy (FAP). Using a compound score based on clinical symptoms and electrophysiological data, clinicians can now ... Read more

March 25, 2022March 25, 2022

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

FAP News Today

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over ... Read more

March 21, 2022March 21, 2022

Rare TTR Gene Mutation Detected in Three Japanese Patients With FAP

FAP News Today

Familial amyloid polyneuropathy (FAP) caused by Thr49Ser, a rare disease-causing mutation, was identified for the first time in three patients from Japan, as described in a recent case series. The ... Read more

March 18, 2022March 18, 2022

RaDaR Serves as Starting Point for Creating Rare Disease Registry

FAP News Today

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric ... Read more

March 14, 2022March 14, 2022

Problems Swallowing, Carpel Tunnel Could Be A97S Mutation Biomarkers

FAP News Today

Early signs of swallowing difficulties and carpal tunnel syndrome may serve as biomarkers for familial amyloid polyneuropathy (FAP) patients carrying the Ala97Ser (A97S) mutation, a study suggests. According to researchers, ... Read more

March 8, 2022March 8, 2022

#RAREis Representation Program Promotes Equity, Diversity

FAP News Today

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; ... Read more