Parents of South Dakota Boy With Pompe Disease Push for Nationwide Newborn Screening
Meg and Christopher Haberman, whose son Isaac has Pompe disease, are strong advocates for nationwide newborn screening for Pompe.
Pompe Features
MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019.
AATD Features, ALGS Features, CAD Features, CC Features, CF Features, DMD Features, Features, GIST Features, HEM Features, IPF Features, LAL-D Features, LCFAOD Features, MG Features, NMOSD Features, PAH Features, Pompe Features, SCD Features, SMA Features
Israel Emerges as Global Powerhouse in Rare Disease Research
When it comes to rare disorders, Israel—a New Jersey-sized nation of 9.3 million that’s made headlines this year for its highly successful coronavirus vaccination campaign—is clearly an emerging powerhouse.
Late-Onset Pompe Disease in the Era of Enzyme Replacement Therapy
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…
Scientists Continue Pursuit of Gene Therapy for Pompe Disease as Second ERT Nears Launch
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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