A new type of substrate reduction therapy composed of antisense oligonucleotides, or ASOs, effectively reduces glycogen accumulation in the…
Articles by Steve Bryson, PhD
Involvement in the brain and spinal cord’s white matter is common in Pompe disease, particularly in the infantile-onset form,…
The benefits seen with Nexviazyme (avalglucosidase alfa) treatment in three people in Japan with Pompe disease matched those…
Higher-than-approved doses of enzyme replacement therapy, or ERT, normalized several features of infantile-onset Pompe disease (IOPD), including motor…
Scientists at Sanofi created digital counterparts of people with Pompe disease to support drug development and advance Pompe disease…
GlycoNOE, a non-invasive form of MRI, detected glycogen accumulation in the muscles of a Pompe disease mouse model, demonstrating its…
Among almost 3,000 people with symptoms consistent with Pompe disease, fewer than 40 were found to carry genetic mutations…
Several metabolic processes in Pompe disease muscles are altered, according to a detailed examination of gene activity in muscle cells…
People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with…
Treatment with Lumizyme (alglucosidase alfa) improved lung function in the short term and slowed lung function decline over the…