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3 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
Enrollment is under way to recruit patients for a phase 3 study designed to assess intravascular (IV) treatment with zaltenibart among individuals with paroxysmal nocturnal hemoglobinuria (PNH), according to a recent press release from Omeros Corporation.
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3 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
Mutations in the MECOM gene have been associated with severe neonatal thrombocytopenia, including disorders such as fetal and neonatal alloimmune thrombocytopenia (FNAIT) and MECOM-associated syndrome. A case report and a literature review on the topic were conducted, with findings published recently in the Journal of Medical Case Reports. The case study depicted a female neonate of Hans-Chinese ethnicity who was born at 36 weeks’ gestational age.
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3 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
A clinical trial studying etranacogene dezaparvovec gene therapy in patients with hemophilia B demonstrated that the treatment has a favorable efficacy and safety profile, including increased factor IX (FIX) activity maintained over 5 years. A phase 2b, multicenter, open-label, single-arm, single-dose, 5-year study (NCT03489291) was conducted, with findings published recently in Blood Advances.
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6 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
Due to common macrocephaly, condition-specific head circumference references are an important monitoring tool for children with achondroplasia, according to an observational study recently published in the Argentinian journal Archivos Argentinos de Pediatría. Recognizing that a scarcity of data is available on the centiles of head circumference among individuals with achondroplasia aged older than 6 years, the researchers sought to expand these centile estimates through age 21.
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6 days ago | 
rarediseaseadvisor.com | Sheila Jacobs
In patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), elevated serum ferritin (SF) levels appear superior to C-reactive protein (CRP) levels in predicting severe kidney injury and poor renal prognosis. A retrospective study on the subject was conducted at Tianjin Medical University General Hospital, located in Tianjin, China, between November 2019 and May 2024. Findings from the study were published recently in Clinical Rheumatology.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Routine abdominal ultrasound uncovered an abdominal mass in a young female with concurrent Wilson disease (WD) and KBG syndrome. This case report was published recently in the Journal of Pediatric Surgery Case Reports. The patient was a 12-year-old girl who was referred to the pediatric surgery unit of a hospital in Italy. A large fluid-filled cystic mass measuring 51 x 34 mm with irregular margins was initially was diagnosed as a left ovarian cyst.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Among individuals in Japan with generalized pustular psoriasis (GPP), treatment with secukinumab has demonstrated sustained effectiveness, according to findings from a postmarketing clinical surveillance study published in The Journal of Dermatology. Investigators conducted a multicenter, open-label, observational study in which all participants were observed from the initiation of secukinumab treatment (ie, observation period), monitored for 1 year, and followed up for an additional 2 years.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Among patients with advanced pulmonary arterial hypertension (PAH), treatment with sotatercept has been associated with a lower risk for death from any cause, lung transplantation, or hospitalization for 24 hours or longer compared with placebo, according to findings from the ZENITH trial. Findings from the multicenter, phase 3, randomized, double-blind, placebo-controlled ZENITH study (NCT04896008) were published recently in The New England Journal of Medicine.
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Additional research that uses rigorous, validated criteria is called for to elucidate whether there is a link between mast cell activation disorders (MCADs), including systemic mastocytosis (SM), and hereditary alpha tryptasemia (HAT) in patients with postural orthostatic tachycardia syndrome (POTS) and/or Ehlers-Danlos syndrome (EDS).
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1 week ago | 
rarediseaseadvisor.com | Sheila Jacobs
Among individuals with eosinophilic granulomatosis with polyangiitis (EGPA)—a form of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV)—more patients treated with benralizumab than with mepolizumab attained a complete response at 12 months, along with a deeper reduction in peripheral eosinophil counts.
