Posts by: Alice Melao

News

Wearable technology that quantifies daily physical activity, such as FitBit One, can help determine mobility patterns and evaluate the clinical status of people with late-onset Pompe disease, a study ... Read more

July 10, 2019July 10, 2019

Tongue Abnormalities Seen on MRI are Common in Late-Onset Pompe, Study Says

News

Magnetic resonance imaging (MRI) showing an abnormally bright signal in the tongue is common among patients with late-onset Pompe disease, a study has found. This particular imaging feature may ... Read more

June 12, 2019June 12, 2019

Asthma Medicine Salmeterol Improves Effectiveness of Gene Therapy for Pompe Disease, Mouse Study Suggests

News

Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness of gene therapy for Pompe disease. Studies ... Read more

April 10, 2019April 10, 2019

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

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