Junction: Cardiology

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An Interview With Abigail Jenkins, President and CEO of Gamida Cell

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Abigail Jenkins, president and CEO of Gamida Cell, on the company’s development of omidubicel as an alternative to umbilical cord blood in stem cell transplants for myelofibrosis and other diseases. Read the full story here: Omidubicel Shows Promise as Replacement for Umbilical Cord Blood in Stem…

pompe disease complications

Clinical Hold on Pompe Disease Trial Lifted

The US Food and Drug Administration (FDA) has lifted the clinical hold on the FORTIS clinical trial that was testing the experimental Pompe disease treatment AT845, according to a press release from Astellas, the developer of the treatment.  “With that same spirit and focus on patient safety, we look forward to resuming the FORTIS clinical…

Pompe disease pathohysiology

Rapid Drug Desensitization With rhGAA Safe and Effective in Pompe Disease

Almost a third of patients with Pompe disease treated with recombinant alglucosidase alfa (rhGAA) developed anaphylaxis in a study published in the International Archives of Allergy and Immunology. When rapid drug desensitization (RDD) with rhGAA was applied no serious breakthrough reactions occurred. “Anaphylaxis with rhGAA is not rare,” the study authors concluded. They also said…

LCFAOD complications

Diagnostic Algorithms May Be Useful in LCFAOD Care

A predetermined protocol with specific algorithms that achieves a prompt diagnosis of long chain fatty acid oxidation disorder (LCFAOD) may translate into better management of the acute metabolic crisis, according to an article recently published in the European Journal of Human Genetics.  “As such, differential diagnosis of FAOD remains important, to initially recognize symptoms and later…

Clinical Trial

LOPD Trial Results Revealed

Results have been posted from a study of respiratory muscle strength in patients with late-onset Pompe disease (LOPD).  The observational study, which started on October 21, 2014, aimed to test the strength of the respiratory muscles in patients with LOPD who were treated or not treated with the experimental enzyme replacement therapy reveglucosidase alfa (BMN…

Keynote Speaker of Muscular Dystrophy Conference Announced 

The director of the Center for Biologics Evaluation and Research (CBER) at the Food and Drug Administration (FDA), Peter Marks, MD, PhD, will deliver this year’s keynote speech at the Muscular Dystrophy Association’s (MDA) 2023 Clinical & Scientific Conference, according to a press release from the association. The conference, which will be held between March…

LCFAOD experimental treatments

mRNA Therapy May Be Useful in VLCAD Deficiency Care

The transfection of human very long-chain acyl-CoA dehydrogenase (hVLCAD) mRNA can generate functional VLCAD enzyme and reverse the metabolic effects of VLCAD deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), found a new study published in the journal Molecular Genetics and Metabolism.  “Our results identify mRNA as a viable therapeutic option for VLCAD…

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