Terri Airov

All articles by Terri Airov

Sickle Cell Disease Genetics

Learn About the Etiology of LAL-D

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare life-limiting genetic disease caused by defects in LAL activity and insufficient lysosomal degradation of lipoproteins, predominantly cholesteryl esters and triglycerides. Learn more about the etiology of LAL-D, disruption of cholesterol homeostasis, and clinical manifestations of the disease here: The Etiology of LAL-D.

FDA Approves First Treatment for Cholestatic Pruritus in Patients With Alagille Syndrome

The US Food and Drug Administration (FDA) has approved maralixibat (Livmarli™) as the first treatment for cholestatic pruritus in patients with Alagille syndrome (ALGS) who are aged 1 year or older, Mirum Pharmaceuticals, Inc. announced. It is now available for prescribing. Maralixibat, which is administered orally once-daily, is a minimally absorbed ileal bile acid transporter…

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FDA Approves New Enzyme Replacement Therapy for Late-Onset Pompe Disease

The US Food and Drug Administration (FDA) has approved Sanofi Genzyme’s avalglucosidase alfa-ngpt (Nexviazyme®), an enzyme replacement therapy (ERT), for the treatment of late-onset Pompe disease (LOPD) in patients who are at least 1 year old. Avalglucosidase alfa helps reduce the accumulation of glycogen that occurs in the skeletal and heart muscles of patients with…

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