National MPS Society Awards $350K to Five Research Projects

As part of its Innovative Research Grants Initiative, the National MPS Society has awarded $350,000 to support five projects into potential ways of better treating mucolipidoses (ML) or mucopolysaccharidosis (MPS) diseases, such as Sanfilippo syndrome (MPS III).

These awards are were given as “cycle 1” of the grant initiative, according to a press release.

Heather Flanagan-Steet, PhD, of the Greenwood Genetic Center in South Carolina, was among award winner. In the study “Comparative Analysis of Mechanisms Driving Skeletal Dysplasia,” she will use zebrafish models of MPS II (Hunter syndrome), MPS IVA (Morquio syndrome), and ML II to pinpoint common pathways involved in bone and cartilage disease.

With her two-year grant, Flanagan-Steet will concentrate on biological pathways that might indicate therapeutic targets to slow progression of these lysosomal storage disorders.

Another recipient, Calogera Simonaro, PhD, with Mount Sinai Medical School in New York, will use the Sanfilippo type A (MPS IIIA) mouse model to study changes in the endocannabinoid system (ECS) in MPS disease.

In people, the complex ECS biological network interacts with products such as cannabidiol (CBD) oil, which is used by some to treat pain and other issues not necessarily related to MPS. As part of the study, “Investigation of the Endocannabinoid System as a Novel Therapeutic Target for the MPS,” Simonaro will explore whether potential therapy candidates can affect the endocannabinoid system in MPS to help ease disease symptoms. Information from the MPS IIIA two-year study may be used to predict changes in the ECS of other syndromes, including MPS I, MPS II, MPS IIIA-IIID (all types of Sanfilippo), and MPS VII.

Michelina Iacovino, PhD, with The Lundquist Institute in California, will use her one-year grant to study the “Role of Autoimmune Disease in MPS Pathology.” In it, she will examine whether aspects of the immune system in MPS patients fail to work as they should. People with lysosomal storage diseases, especially MPS disorders, are known to experience higher-than-normal levels inflammation.

Because Iacovino and Lydia Polgreen, a colleague, have already identified prospective autoimmune activation in Sanfilippo syndrome, they plan to see whether immune modulating treatments might help these patients.

Igor Nestrasil, MD, PhD, of the University of Minnesota, will use his one-year award to help identify magnetic resonance imaging (MRI) characteristics that could distinguish MPS II patients with cognition difficulties from those without them. A goal is to see if MRI scans might serve as a predictive biomarker for therapy development as well as for treatment decisions.

This study, titled “MPS II Brain Phenotypes,“ is particularly timely given the possibility that MPS II may added to newborn screenings in the U.S. Such screening is federally approved for MPS I, but implementation is up to individual states. Newborn screening is used to identify and diagnose genetic disorders shortly after birth to prevent or lessen clinical symptoms with early treatment.

Finally, Brianna Yund, a PhD also with the University of Minnesota, plans to use her one-year grant to study whether mild cognitive issues are evident in several MPS syndromes where general cognition and its use appear normal.

In particular, Yund aims to assess these disorders for more insidious or elusive problems with cognition and central nervous system function. Yund and her mentor, Julie Eisengart, PhD, will evaluate patients who have non-neuropathic disease, and are among those with MPS I, MPS II, MPS IVA, or MPS VI.