A Proof-of-Concept Study for an Experimental Hurler Syndrome Treatment is Going Well so Far

According to a story from sectorpublishingintelligence.co.uk, the biopharmaceutical company Orchard Therapeutics recently announced the release of some data from an ongoing proof-of-concept study. This special trial is testing the company’s experimental product candidate OTL-203 as a potential treatment for mucopolysaccharidosis (MPS) I, also known as Hurler syndrome. The data so far contains as much as 12 months of follow up from the first dosed patient.

About Hurler Syndrome

Hurler syndrome is a rare type of lysosomal storage disease. The disease is linked to a mutation affecting both copies of the IDUA gene, which is responsible for the production of the enzyme alpha-L iduronidase (IDUA). When this enzyme is deficient, the substances dermatan sulfate and heparan sulfate build up in the body, causing severe, systemic symptoms. Symptoms progress over time and appear during the patient’s first year. These symptoms include large head, distinct facial features, growth problems, joint stiffness, spine and hip deformities, carpal tunnel, hernias, blindness, and cognitive disability. The disease often progresses rapidly. Treatments are limited both in number and effectiveness for Hurler syndrome. They may include enzyme replacement therapy, umbilical cord blood transplantation, or bone marrow transplantation. Unfortunately, few patients survive beyond their 10th year of life. There is an urgent need for more effective therapies. To learn more about Hurler syndrome, click here.

The Study So Far

The data was first presented at a meeting of the Society for the Study of Inborn Errors of Metabolism (SSIEM). OTL-203 is a unique therapy that functions as a gene therapy, but it is delivered via a stem cell transplant. So far, the results from the trial appear to be going relatively well. Patients are experiencing stable engraftment of the blood that carries the corrected gene. The result has been increased expression of the IDUA enzyme which appears to be having encouraging early affects on patients. The study ultimately hopes to enroll a total of eight patients by 2020.

Orchard’s stem cell transplant based gene therapy appears to have real potential in treating Hurler syndrome and a swathe of related diseases. Hopefully the final results of this trial will continue to demonstrate the capability of OTL-203.


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