Diagnosis & Disease Information

systemic mastocytosis Pathophysiology

Multidisciplinary Cooperation Could Improve Diagnosis of SM

A single-center retrospective study found differences in survival among patients with different types of mastocytosis and identified factors contributing to survival and prognosis. The study was recently published in BMC Cancer. The study’s authors observed a negative correlation between survival and mast cell infiltration rate in the bone marrow, bone marrow dysplasia, and the occurrence…

FDA sign

FDA Accepts Supplemental New Drug Application for Avapritinib for Indolent SM

The US Food and Drug Administration (FDA) has accepted a supplemental New Drug Application (NDA) for avapritinib (Ayvakit®) for the treatment of adult patients with indolent systemic mastocytosis (SM). The regulatory application is based on results from the global PIONEER trial—the largest randomized, placebo-controlled study conducted to date in individuals with SM. The FDA previously…

COVID19

Case Report: Liver Transplantation in a Pediatric Patient With ALGS and COVID-19

Liver transplantation was successfully performed in a pediatric patient with Alagille syndrome (ALGS) and a concomitant severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, according to a case report recently published in Hepatology Research. The patient, a 3-year-old girl with liver cirrhosis, was admitted to a hospital for deceased-donor liver transplantation. As the patient’s liver…

Cardiomyopathy

Hereditary ATTR-CM Has a Poorer Prognosis Than the Wild-Type Form

Around one-fifth of elderly patients with transthyretin amyloidosis cardiomyopathy (ATTR-CM) have a pathogenic TTR variant, according to a study published in the European Journal of Heart Failure. ATTR-CM has gained increasing recognition in recent years, aided by advances in imaging studies, such as cardiac magnetic resonance and scintigraphy with bone tracers. This has coincided with…

eye exam

Patients With hATTR Exhibit Severe Ocular Involvement

Patients with hereditary transthyretin amyloidosis (hATTR) often have ocular manifestations that may be associated with devastating consequences to best-corrected visual acuity (BCVA) and quality of life, according to the results of a cross-sectional, noninterventional study conducted in Spain and published in Retina. The researchers sought to determine ophthalmologic involvement in patients with hATTR and its…

clinical trial researchers

New Study Will Investigate Experimental Therapy for Use in Hereditary Angioedema

ADARx Pharmaceuticals is recruiting for the first-in-human clinical study assessing the pharmacokinetics and pharmacodynamics of ADX-324, as well as the safety and tolerability of the experimental treatment, in healthy volunteers and patients with hereditary angioedema (HAE).  ADX-324 is a short-interfering RNA (siRNA) duplex oligonucleotide. Participants will be randomized to receive either ADX-324 or the placebo…

COVID-19 vaccine

COVID-19 mRNA Vaccines Appear Safe and Effective in Patients With HAE

In patients with hereditary angioedema (HAE), the administration of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) messenger RNA (mRNA) vaccines is safe and effective, according to the results of a prospective, observational study conducted at the Campania Referral Center for Recurrent Angioedema, University of Naples Federico II in Italy and published in Vaccines. The researchers…

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