Bob Stevens, Group CEO of the MPS Society and Rare Disease Research Partners in the UK, discusses global efforts towards developing treatment options for patients with rare lysosomal storage disorders (LSDs).
Mr. Stevens has been involved with the UK MPS Society since 2002, when both of his sons were diagnosed with mucopolysaccharidosis II (MPS II). MPS II is an inherited disorder of carbohydrate metabolism caused by genetic changes in the IDS gene.It is characterized by distinctive facial features, a large head, hydrocephalus, hepatosplenomegaly, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities.
When his sons were first diagnosed, there were no treatment options for this condition and the family had to wait four years to receive an enzyme replacement therapy that had been developed. Mr. Stevens notes that currently, many more options are available for some of the MPS communities, but not all, highlighting a large unmet medical need. Many treatments are in development; including some that have the ability to cross the blood-brain barrier, capable of addressing neuronopathic variants of disease.
Although exciting, Mr. Stevens explains how the healthcare ecosystem is struggling to keep up with the advancing science. Establishing better biomarkers for disease testing and adopting better newborn screening regulations and guidelines is essential to helping the next generation of patients.
At WORLDSymposium 2026, Mr. Stevens set out to challenge and inspire the LSD community to reduce the time it takes to develop treatments and get them in the hands of patients, something that takes about 12 years on average right now. His poster in partnership with the Global LSD Collaborative focused on the need for discussions with expert international organizations on the commonality of issues in LSDs globally, addressing inequities in healthcare systems, and increasing the patient voice.
For more information on MPS II and other rare LSDs, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
