Researchers from France developed a gene therapy approach based on hematopoietic stem cells for the erythroid-specific expression of lysosomal acid lipase (LAL) enzyme in the blood as a potential curative treatment for LAL deficiency (LAL-D). The LAL enzyme is essential for the hydrolysis of cholesteryl ester and triglyceride in the lysosome. So its deficiency leads…
Rapid whole-genome sequencing (rWGS) should become part of the assessment tools as a possibility of diagnosing pediatric patients with lysosomal acid lipase deficiency (LAL-D) who require intensive care unit (ICU) admission, according to a study recently published in Genome Medicine. “A middle ground approach between the expedited analysis in this and other rWGS studies would…
People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases. A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases.…
The long-term use of sebelipase alfa (Kanuma®), an enzyme replacement therapy (ERT), resulted in overall improvements for patients with lysosomal acid lipase deficiency (LAL-D) but with significant interpatient variability, according to an invited commentary published in the Journal of Pediatric Gastroenterology and Nutrition. The commentary discusses the results and impact of a previously published study…
Quantitative assessment of enzymatic reaction byproducts using mass spectrometry or fluorimetry may become a novel diagnostic tool for Pompe disease (PD) and other lysosomal storage diseases (LSDs), according to a study recently published in The FASEB Journal. Substrates of such enzymes are usually made up of a particle recognized by the enzyme that is attached…
A new pilot newborn screening program that allows parents to screen their newborns for 14 rare genetic diseases, including lysosomal acid lipase deficiency (LAL-D), has been launched in New York. The study, called ScreenPlus, is enrolling participants aged less than 4 weeks of any sex, gestational age, and health status who were born at 1…
A new study published in the Orphanet Journal of Rare Diseases explores the feelings and reactions of parents who have a child diagnosed with lysosomal acid lipase deficiency (LAL-D), finding uncertainty and powerlessness to be shared themes. Researchers interviewed parents of children with the disease and found that treatment successes were critical to giving families…
Previous experimental findings regarding lysosomal acid lipase deficiency (LAL-D) induced by lalistat-1 (L1) and/or lalistat-2 (L2) in mice might not be as accurate as initially thought, according to a new study published in Molecular Metabolism. The experimental study led by Bradić analyzed the off-target effects of lysosomal acid lipase (LAL) inhibitors L1 and L2 and…
Sebelipase alfa is well tolerated and leads to sustained improvements in liver and lipid parameters in adults and children with lysosomal acid lipase deficiency (LAL-D), according to the results of a clinical trial published in the Journal of Pediatric Gastroenterology and Nutrition. Sebelipase alfa, sold under the brand name Kanuma®, is an enzyme replacement therapy…
Researchers reported on the problems with using in vitro differentiation of pluripotent stem cells into hepatocyte-like cells (HLCs) in liver disease research and therefore introduced potential solutions, such as different techniques for 3D differentiation, as published in Stem Cell Research. Clinical research on liver diseases is often centered around in vitro liver models that are…
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