All articles tagged with #metachromatic leukodystrophy
A 5-year-old girl is diagnosed with metachromatic leukodystrophy, a rare genetic disease; her diagnosis leads doctors to test her younger brother, who is found to have the same condition and is now set to begin a $4 million gene therapy that could save his life, while the sister's decline underscores the emotional toll on the family.
A Long Beach, NY family faces the rapid decline of 5-year-old Anna Somers from metachromatic leukodystrophy (MLD), a rare genetic disease with no cure. Her diagnosis leads doctors to test her 2-year-old brother, Joey, who is also found to have MLD. With a gene therapy approved in 2024 costing about $4 million, Joey will begin treatment before symptoms appear, offering a chance to save his life even as Anna’s condition continues to deteriorate.
U.S. Secretary of Health and Human Services has approved adding Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy to the newborn screening panel, enabling earlier diagnosis and treatment to improve outcomes for affected children.
The FDA has approved Lenmeldy, the first gene therapy for children with metachromatic leukodystrophy (MLD), a rare genetic disease affecting the brain and nervous system. Lenmeldy is a one-time, individualized single-dose infusion made from the patient’s own stem cells, genetically modified to include functional copies of the ARSA gene. Clinical trials showed that treatment with Lenmeldy significantly reduced the risk of severe motor impairment or death compared with untreated children. The most common side effects are fever and low white blood cell count, and patients should be monitored for potential complications.