Dean Suhr, co-founder and President of the MLD Foundation, discusses the need to get metachromatic leukodystrophy (MLD) as part of the Recommended Uniform Screening Panel (RUSP) and the recently approved Lenmeldy (atidarsagene autotemcel) and its effects on families.
MLD is an inherited condition characterized by the accumulation of sulfatides in cells, especially of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of myelin-covered nerve fibers. This condition is caused by genetic changes in the ARSA and PSAP genes. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive.
Atidarsagene autotemcel is a one-time autologous hematopoietic stem cell-based gene therapy. It is the only therapy indicated for the treatment of children with MLD.
Following the approval of the treatment, next steps involve identifying pre-symptomatic patients. The main goal in this is to gain RUSP approval. This would increase the likelihood of MLD testing during newborn screening, thus catching the disease sooner and while patients are pre-symptomatic.
Mr. Suhr describes how long of a journey it has been to get to the approval of atidarsagene autotemcel and how patients enrolled in previous clinical trials provide hope and support for families of newly diagnosed patients.
To learn more about MLD and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
