In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel gene therapy with potentially increased effectiveness and safety for the treatment for metachromatic leukodystrophy (MLD), a rare disease in young children characterized by the deficient activity of a critical enzyme. Without effective treatment, MLD leads to rapidly declining neurological skills in young children and is potentially fatal. The promising findings were published in the journal Molecular Therapy Nucleic Acids.

CHOP’s Leukodystrophy Center, one of the leading centers of its kind in the nation, now offers Lenmeldy to treat children with metachromatic leukodystrophy (MLD). 

This case study discusses when primary care professionals should refer their patients to a specialist.

Researchers at Children’s Hospital of Philadelphia (CHOP) announced the results of a new study highlighting significant genetic links in speech and language disorders in children.

New method, bolstered by a study of 89 million points of data, could help patients receive precision care months or years earlier

While unable to speak, patients can understand parents and caregivers, paving the way for future clinical trial design

The methodology developed in this study could help guide clinical trial design for many rare diseases

What symptoms need to be present for a PCP to consider Guillain-Barré syndrome in a 3-year-old who refuses to walk?

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