Posts by: Alice Melao

News

New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making early recognition of these anomolies ... Read more

February 26, 2019February 26, 2019

Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation

News

The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to Amicus Therapeutics’ lead therapy candidate for the treatment of late-onset Pompe disease, AT-GAA (ATB200/AT221). The FDA’s decision ... Read more

December 19, 2018December 19, 2018

Late-Onset Pompe Disease Mix with Findings of Amyloidosis in Patient, Case Study Reports

News

Manifestations of Pompe disease — its suspected signs or symptoms — can mimic diagnostic findings of a rare type of amyloidosis, a case study reports. The report, “Pompe Disease ... Read more

December 12, 2018December 12, 2018

Enzyme Replacement Therapy for Pompe Disease Could Be Derived From Rice, Study Suggests

News

A research team in Korea has developed a new method using rice to produce lab-made human acid alpha-glucosidase (GAA) for the treatment of Pompe disease. Their findings were published ... Read more

September 12, 2018September 12, 2018

Amicus Announces Plans for Developing AT-GAA to Treat Pompe Disease

News

Amicus Therapeutics is planning to launch a pivotal trial to compare its investigational therapy AT-GAA (ATB200/AT221) to the current standard of care available for patients with Pompe disease. The new ... Read more

July 25, 2018July 25, 2018

Quantitative Muscle MRI Can Help Monitor Late-onset Pompe Disease, Study Shows

News

Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate muscular status and monitor patients with late-onset Pompe disease (LOPD), according to researchers. Their study, ... Read more

July 18, 2018July 18, 2018

Higher Lumizyme Dose May Help Prevent Pompe Progression in Infants, Case Report Suggests

News

Treatment with Lumizyme (alglucosidase alfa) at double the approved dose may help prevent the rapid decline of respiratory and cardiovascular functions in infants with Pompe disease, a case report suggests. ... Read more

June 14, 2018June 14, 2018

Infantile-onset Pompe Disease Cases Highlight Importance of Early Diagnosis, Treatment

News

Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. ... Read more

May 23, 2018May 23, 2018

NIH Awards $325K Small Business Grant to Develop Risk Assessment Tool for Pompe Disease

News

The National Institutes of Health (NIH) has awarded EpiVax with a Small Business Innovation Research (SBIR) grant of $324,980. The company is going to use the funding to further ... Read more

May 16, 2018May 16, 2018

ERT Fails to Prevent Long-Term Effects of Infantile Pompe Disease to Brain, Study Shows

News

Treatment with enzyme replacement therapy can help children with classic infantile Pompe disease reach adulthood. However, it fails to prevent the long-term effects of the disease in the brain and ... Read more

Posts by: Alice Melao

Alice Melao

3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease

Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation

Late-Onset Pompe Disease Mix with Findings of Amyloidosis in Patient, Case Study Reports

Enzyme Replacement Therapy for Pompe Disease Could Be Derived From Rice, Study Suggests

Amicus Announces Plans for Developing AT-GAA to Treat Pompe Disease

Quantitative Muscle MRI Can Help Monitor Late-onset Pompe Disease, Study Shows

Higher Lumizyme Dose May Help Prevent Pompe Progression in Infants, Case Report Suggests

Infantile-onset Pompe Disease Cases Highlight Importance of Early Diagnosis, Treatment

NIH Awards $325K Small Business Grant to Develop Risk Assessment Tool for Pompe Disease

ERT Fails to Prevent Long-Term Effects of Infantile Pompe Disease to Brain, Study Shows

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