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Pompe Features

DMD Features, Features, Pompe Features, SMA Features

MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD

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Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage early next year at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019. The 2022 MDA Clinical & Scientific Conference, set for March 13-16 in Nashville, Tennessee, is expected to attract between 700 and 800 people in…

Hagit Baris-Feldman
AATD Features, ALGS Features, CAD Features, CC Features, DMD Features, Features, GIST Features, HEM Features, IPF Features, LAL-D Features, LCFAOD Features, NMOSD Features, PAH Features, Pompe Features, SMA Features

Israel Emerges as Global Powerhouse in Rare Disease Research

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TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…

woman prepares an IV Drip
Features, KOL, Pompe Features

Late-Onset Pompe Disease in the Era of Enzyme Replacement Therapy

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Pompe disease is a rare, multisystemic, autosomal recessive disease also known as glycogen storage disease type II. It is caused by the lack or deficiency of lysosomal acid-alpha-glucosidase (GAA), which leads to the accumulation of glycogen within lysosomes that manifests as a multisystem disorder. There was no specific treatment for Pompe disease until the first…

Features, Pompe Features

Scientists Continue Pursuit of Gene Therapy for Pompe Disease as Second ERT Nears Launch

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Researchers are racing to develop a gene therapy for Pompe disease, even as Sanofi Genzyme prepares to market avalglucosidase alfa-ngpt (Nexviazyme®) for patients at least 1 year old with the late-onset version of the illness. Until the US Food and Drug Administration approved avalglucosidase alfa on August 6, 2021, the only other drug cleared to treat…

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