A genetic variant in TTR — the gene implicated in familial amyloid polyneuropathy (FAP) — was linked with a greater risk of heart failure…
News
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…
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…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to…
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…
Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid…
A highly sensitive tool has been developed to help identify patients with familial amyloid polyneuropathy (FAP). Using a compound score based on clinical symptoms…
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…
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…
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…
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