Publications by authors named "Fernando Laredo"
Article Synopsis
- Acid sphingomyelinase deficiency (ASMD) is a serious genetic disease that can affect people from childhood to adulthood, caused by problems with a gene called SMPD1.
- A study reviewed medical records from 27 hospitals in France to learn more about the health and survival of patients with ASMD from 1990 to 2020.
- The results showed that patients with type A usually did not live past early childhood, while those with type B lived longer, but there were still risks of early death from serious illnesses like neurodegeneration and cancer.
Article Synopsis
- Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease, and this study aimed to understand its natural history in children and adolescents.
- The research included 18 patients from European centers, focusing on their medical conditions and treatments before any intervention, with a median diagnosis age of 2.5 years and a follow-up period of 10 years.
- Common health issues reported included liver and spleen problems, frequent hospitalizations, and various surgical and infection-related events, aligning with existing literature on ASMD.
Article Synopsis
- Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disease in Germany with various clinical forms, necessitating more data on survival and health outcomes in affected patients.
- A retrospective study analyzed medical records of 33 patients diagnosed with ASMD type B or A/B between 1990 and 2021, focusing on demographics, medical history, hospitalizations, and mortality rates.
- The study found a high mortality rate, especially in patients under 18, with median ages at diagnosis of 8 years for type B and 1 year for type A/B, revealing that liver and respiratory issues were the leading causes of death.
European real-world data indicate that front-line treatment with caplacizumab is associated with improved clinical outcomes compared with delayed caplacizumab treatment. The objective of the study was to describe the characteristics, treatment patterns, and outcomes in hospitalized patients with an immune-mediated thrombotic thrombocytopenic purpura (iTTP) episode treated with front-line versus delayed caplacizumab in the US. This retrospective cohort analysis of a US hospital database included adult patients (≥18 years) with an acute iTTP episode (a diagnosis of thrombotic microangiopathy and ≥1 therapeutic plasma exchange [TPE] procedure) from January 21, 2019, to February 28, 2021.
View Article and Find Full Text PDFIntroduction: Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to quantify the value of new treatments, and these analyses require health state utilities. Therefore, the purpose of this study was to estimate utilities associated with varying levels of severity of adult and pediatric ASMD type B.
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