Participants Sought for Study to Help Predict Types, Severity of MPS Disorders

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by Forest Ray PhD |

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pilot Newborn Screening program

The University of Washington and the National MPS Society are seeking  participants for a study to predict the type and severity of MPS (mucopolysaccharidosis) disorders, such as Sanfilippo syndrome (MPS III).

Results of the study will be used to improve newborn screening efforts. Participants with MPS II (Hunter syndrome), MPS III (Sanfilippo, all subtypes), MPS IV (Morquio syndrome, all subtypes), MPS VI (Maroteaux-Lemy syndrome), and MPS VII (Sly syndrome) are sought in the states of California, Michigan, New Jersey, and New York.

This study will analyze pre-existing blood samples in an effort to correlate specific biomarkers with the type and severity of participants’ conditions, according to a press release.

Such samples are routinely collected at birth and dry-stored on a card as part of standard screens for genetic disorders. Because of this, participants will not need to undergo any additional bloodwork or lab tests.

With the permission of participants, researchers will collect a single dried blood spot from the card. Using mass spectrometry, a powerful analytical technology, researchers conducting the study will measure the levels of biomarkers called glycosaminoglycans in each blood sample.

Glycosaminoglycans are complex sugars that accumulate in the cells of people with MPS disorders. In Sanfilippo syndrome, for instance, the syndrome’s four subtypes — A, B, C, and D — each correspond to the loss of a different enzyme that breaks down and recycles a glycosaminoglycan called heparan sulphate.

Knowing whether certain biomarkers can predict clinically relevant outcomes is critical to improving newborn screening and the diagnosis of MPS. Although certain U.S. states already screen for MPS I and II, this study aims to be useful in screening for all syndromes.

This study has Institutional Review Board approval, meaning it has been reviewed and okayed by the U.S. Food and Drug Administration, through August 2021.

The study already has been completed for several other conditions. These include severe MPS I, or Hurler Syndrome, although participants with attenuated forms of MPS I, or Hurler-Scheie or Scheie Syndromes, are still needed for further evaluation.

Those interested in participating in the study should download state-specific packets found via links at the bottom of the MPS Society press release.

Completed forms may be sent via email, or by USPS mail to: National MPS Society, P.O. Box 14686, Durham, NC 27709.