Bobby Gasper, MD Chief Scientific Officer of Orchard Therapeutics, discusses his company’s gene therapy being developed for MPS I. Dr. Gasper noted while ERT is available for these children, that treatment does not cross the blood brain barrier and there is a need for a treatment that can treat both the physical and cognitive problems that arise in these children.
Mucopolysaccharidoses (MPSs) are a group lysosomal storage disorders in which persons have low levels of specific enzymes that cause an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans). One of those MPSs is MPS I. In its most severe cases it is know an Hurler syndrome (less severe forms are revered to as Hurler-Scheie syndrome and Scheie syndrome).
People with MPS I have insufficient levels of alpha-L-iduronidase. MPS I babies appear normal but as more cells become damaged due to the accumulation of dermatan sulfate and heparan sulfate, symptoms start to appear. In children with the most severe form, Hurler syndrome, early symptoms usually appear within the first year of life and the most prominent feature usually being course facial bone structure as well as numerous other physical and intellectual disabilities. Without treatment, these children do not live past the age of 10 years.
There is no curative treatment for MPS I but treatments are available to attenuate the progressive of the disease, including bone marrow transplantation and/or enzyme replacement therapy (ERT).
“There is a proof-of-concept study that has started now for using gene therapy for MPS I,” noted Dr. Gasper, adding, that while data is preliminary, the results are promising.