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…

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…

angioedema

Case Report: HAE With Normal C1-INH Refractory to Long-Term Prophylaxis

A patient with hereditary angioedema (HAE) and normal C1 esterase inhibitor levels (HAE nC1-INH) experienced frequent and severe disease exacerbations despite long-term prophylaxis, according to a recent case report published in Cureus. The authors described the case of a 38-year-old female patient who first experienced HAE symptoms at the age of 16 years. She also…

mast cell

Case Report Demonstrates Effectiveness of Omalizumab in Children With SM

A child with severe systemic mastocytosis (SM) remained unresponsive to conventional medical treatments until the initiation of omalizumab rapidly led to a complete and steady resolution of all symptoms, according to a new case report published in the Italian Journal of Pediatrics. The study authors reported on a case of an 8-year-old Caucasian male patient…

Urticaria pigmentosa is found in most patients with mastocytosis.

Heterogeneity of Mastocytosis in the Skin Observed in Adults and Children

Mastocytosis in the skin (MIS) demonstrates heterogeneity among children and adults, with different types of cutaneous mastocytosis (CM) lesions noted in each patient population, according to the results of a retrospective, observational study published in the Swedish journal Acta Dermato-Venereologica. The World Health Organization divides mastocytosis into 2 main categories: systemic mastocytosis (SM) and CM.…

infusion bottle

A Case of HAE With Normal C1 Inhibitor That Responded to Prednisolone

Researchers reported on a case of hereditary angioedema in a 36-year-old Japanese woman with normal C1 inhibitor and psychiatric comorbidities including dissociative disorder. The case, published in The Journal of Dermatology, reported the patient had lip, tongue, and finger edema attacks and relatives who had experienced facial angioedema episodes. “Hereditary angioedema (HAE) is a rare,…

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