Lurie Children's Hospital administers first gene therapy for Duchenne muscular dystrophy in Illinois

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On March 27, 2024, Ann & Robert H. Lurie Children's Hospital of Chicago treated its first diligent pinch ELEVIDYS (delandistrogene moxeparvovec-rokl), nan first cistron therapy for Duchenne muscular dystrophy – a rare, familial illness characterized by progressive musculus harm and weakness. Lurie Children's is nan first successful Illinois to administer this curen aft ELEVIDYS received U.S. Food and Drug Administration (FDA) support successful June 2023.

Developed by Sarepta Therapeutics, ELEVIDYS is approved for nan curen of Duchenne muscular dystrophy (DMD) successful ambulatory patients aged 4 done 5 years pinch a confirmed mutation successful nan DMD gene.

Our squad astatine Lurie Children's has had encouraging acquisition pinch this cistron therapy for Duchenne done our progressive information successful objective trials. Over nan past 2 years, we person treated 3 boys pinch DMD pinch ELEVIDYS arsenic portion of a larger objective trial, and it's gratifying to spot that their musculus spot and usability stabilized. Without cistron therapy, we would expect to spot ongoing deterioration successful musculus usability successful these boys. This therapy is not a cure, and unluckily it cannot reverse erstwhile musculus damage, but we expect that we tin slow down nan illness capable for subject to measurement successful and connection caller treatments. This is nan opening of a very breathtaking journey."

Nancy Kuntz, MD, Director of Muscular Dystrophy Association Care Center at Lurie Children's and Professor of Pediatrics and Neurology astatine Northwestern University Feinberg School of Medicine

Duchenne occurs successful astir 1 successful each 3,500-5,000 newborn males worldwide. It is caused by mutations successful nan dystrophin cistron that lead to a deficiency of dystrophin protein, which acts arsenic a daze absorber erstwhile muscles move. The first subtle signs of DMD whitethorn look during infancy. Muscle weakness becomes progressively noticeable betwixt nan ages of 3 and 5 years pinch nan test being typically made astir those ages. Most children surviving pinch Duchenne usage a wheelchair by property 13 years. The starring causes of decease successful individuals pinch Duchenne are respiratory aliases cardiac failure, which typically occurs erstwhile patients are successful their mid-20s/30s.

Mason Flessner, now an energetic 6-year-old, was 1 of nan objective proceedings participants astatine Lurie Children's who received ELEVIDYS astir 8 months ago. He now is capable to tally faster, climb stairs much easy and moreover jump – thing he couldn't do previously. His small brother, 3-year-old Dawson, who besides has Duchenne, is waiting until he is aged capable to suffice for cistron therapy.

"ELEVIDYS has been life-changing for Mason, and it has fixed america dream and optimism that Duchenne is nary longer a fatal diagnosis," said Dan Flessner, Mason's father. "Thanks to research, cistron therapy now gives america a pathway to a cure. With truthful overmuch advancement already, it's not a pipedream anymore."

ELEVIDYS is administered arsenic a one-time intravenous infusion. The cistron therapy addresses nan guidelines familial origin of Duchenne by delivering a cistron that codes for a shortened shape of dystrophin to musculus cells, known arsenic ELEVIDYS-dystrophin. Because dystrophin cistron is nan largest known quality gene, scientists engineered a shortened type of nan cistron that could fresh wrong existent cistron therapy transportation technologies and still clasp cardinal functional information. The therapy's accelerated support is based connected an summation successful ELEVIDYS-dystrophin macromolecule look successful skeletal musculus cells.

"Across nan country, since nan FDA approval, ELEVIDYS has only been administered a fewer times and we're very excited to beryllium nan first tract successful Illinois to administer it," said Abigail Schwaede, MD, 1 of nan neuromuscular physicians connected Mason's attraction squad astatine Lurie Children's and Assistant Professor of Pediatrics astatine Northwestern University Feinberg School of Medicine. "This curen has tremendous imaginable to amended nan value of life and semipermanent outcomes for boys pinch Duchenne muscular dystrophy."