ATMP Use Case - Metachromatic Leukodystrophy (MLD)
Metachromatic leukodystrophy (MLD) is a rare and severely progressive, genetically inherited disorder of the nervous system caused by a deficiency of arylsulfatase A. This enzyme is crucial for the breakdown of sulfatides, which are essential components of the myelin sheaths surrounding nerve fibers. In MLD, these lipids accumulate, leading to the progressive loss of white matter in the brain. The disease manifests through neurological symptoms such as gait disturbances and cognitive decline, and, if left untreated, results in severe neurological dysfunction.
Gene Therapy for MLD
Gene therapy focussing on correcting the underlying genetic defect that causes the enzyme deficiency has emerged as a potential treatment for MLD. . The gene therapy approach involves autologous stem cell transplantation, where a patient’s own stem cells are modified with the corrected gene and then transplanted back into the patient’s body.
The gene therapy for MLD has shown promising results in clinical trials, demonstrating good safety and effectiveness in halting or even reversing some aspects of the disease improving quality of life and preserving neurological function.
In Europe, MLD gene therapy (Atidarsagene Autotemcel, Libmeldy®) has been approved as a new treatment option for MLD. In Germany, it is available at the University Hospital for Pediatric and Adolescent Medicine in Tübingen.
This innovative treatment represents a significant advancement in the management of MLD, offering hope for affected patients.