Posts by: Joana Carvalho, PhD

Joana Carvalho, PhD

Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.

June 17, 2020June 17, 2020

Avalglucosidase Alfa Improves Breathing, Mobility in Late-onset Patients in Phase 3 Trial

News

Avalglucosidase alfa, an investigational next-generation enzyme replacement therapy (ERT), leads to clinically meaningful improvements in respiratory muscle strength and mobility in children and adults with late-onset Pompe disease (LOPD), according ... Read more

May 28, 2020May 28, 2020

Lumizyme-Myozyme Given Early and at Higher Dose May Be Best for Infantile-onset Pompe

News

When administered early and above its recommended dose, Myozyme (alglucosidase alfa, known as Lumizyme in the U.S.) may improve the clinical outcomes and prognosis of people with infantile-onset Pompe ... Read more

May 7, 2020May 7, 2020

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

News

Increased awareness of late-onset Pompe disease (LOPD) is crucial to shorten the delay in diagnosis and start appropriate treatment as early as possible, a study says. The study, “Late-onset ... Read more

March 26, 2020March 26, 2020

Ultrasound May Help Assess Diaphragm Dysfunction in LOPD Patients

News

Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset ... Read more

January 16, 2020January 16, 2020

Amicus Completes Patient Enrollment for Phase 3 Trial of AT-GAA; Remains on Track to File BLA in 2021

News

Amicus Therapeutics has completed and exceeded patient enrollment for its Phase 3 PROPEL trial of AT-GAA, its investigational chaperone therapy for the treatment of Pompe disease. The company also ... Read more

July 3, 2019July 3, 2019

Amicus and Paragon Working to Advance Potential Gene and Other Therapies for Rare Diseases Like Pompe

News

Amicus Therapeutics announced that it has entered into a manufacturing agreement with Paragon Bioservices to drive the development of technologies, including gene therapies, now in preclinical testing for the treatment of ... Read more

May 22, 2019May 22, 2019

New Genetic Variant May Help Explain Variability of Symptom Onset, Study Says

News

Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in life. The study, “A genetic ... Read more

March 13, 2019March 13, 2019

Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports

News

Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. The study, “Health utilities and ... Read more