Posts by: Joana Carvalho

Joana Carvalho

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.

January 20, 2021January 20, 2021

Chest MRI May Capture Respiratory Muscle Weakness at Early Stages

News

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is still within a normal range, ... Read more

January 7, 2021January 7, 2021

Repurposed Deferoxamine Found to Counteract Effects of LOPD Gene Variant

News

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset ... Read more

November 25, 2020November 25, 2020

Avalglucosidase Alfa, Next-gen ERT for Pompe, Under FDA Priority Review

News

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency ... Read more

October 21, 2020October 21, 2020

Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

News

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of ... Read more

September 16, 2020September 16, 2020

Spark Resumes Enrollment Into SPK-3006 Clinical Studies for LOPD, Stopped for COVID-19

News

Spark Therapeutics has resumed enrollment into two international clinical studies testing SPK-3006, the company’s investigational gene therapy for Pompe disease. Recruitment of adults with late-onset Pompe disease (LOPD) into ... Read more

July 1, 2020July 1, 2020

Myozyme at Higher Dose More Effective for Classic Infantile Pompe, Study Says

News

Children with classic infantile Pompe disease on higher and more frequent doses of Myozyme (alglucosidase alfa) live longer without needing respiratory support, and have better motor outcomes, than those ... Read more

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