National MPS Society New Born Screening Study for Mucopolysaccharidoses (MPS) and Mucolipidoses (ML)

Jul 31, 2020 | Mucolipidoses (ML), Mucopolysaccharidoses (MPS), National MPS Society, News

National MPS Society New Born Screening Study for Mucopolysaccharidoses (MPS) and Mucolipidoses (ML)

Clinical researchers at the University of Washington are collaborating with the National MPS Society for an important study to evaluate newborn screening efforts. IRB approved through August 2021, this study seek to collect information  about newborns that is critical to improve screening and diagnosis of MPS. Several states have commenced screening for MPS I and II, and hence the study is timely and will be used for all syndromes.

What is MPS & ML?

The MPS is a patient advocacy organization focused on the mucopolysaccharidoses (MPS) and mucolipidoses (ML), both progressive storage disorders that share many clinical features varying form facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, development regression, and a reduced life expectancy at the severe end of the clinical spectrum to an almost normal clinical phenotype and life span in patients with more attenuated disease, reports PubMed. Both MPS and ML are transmitted in an autosomal recessive manner, except for the X-linked MPS II (Hunter Syndrome).

There are currently no cure for these disorders. The medical team will focus on treating systemic conditions and improving the person’s quality of life. Additionally, physical therapy and daily exercise may delay joint problems and improve the ability to move.

For MPS, dietary restrictions may be imposed and various treatments may be undertaken depending on the condition.  Enzyme replacement therapy is considered useful for some in reducing non-neurological symptoms and pain. Currently BioMarin produces enzyme replacement therapies for MPS type 1 and VI. Other treatments can be viewed here.

What is the National MPS Society?

The National MPS Society seeks to support and advocate for MPs and MP. They seek to serve individuals, families and friends affected by MPS via supporting research, families and to increase public and professional awareness about these disorders.

The Newborn Screening Study

The study is recruiting in several states as well as those states who have privately banked cord blood and would provide a single-drop sample. The study is available to patients with MPS II, III, IV, and VII born in one of the following states: California, Michigan, New Jersey and New York.

This study will collect a single dried blood spot from the card that includes samples collected from a baby at birth. Using mass spectrometry, researchers shall measure the level of specific biomarkers (glycosaminoglycans) in blood sample from birth reports the National MPS Society announcing its Newborn Screening Study.

Goal of the Study

The National MPS Society and clinical investigators seek to understand if the levels of specific biomarkers present at birth can predict the type and severity of MPS. This information is critical to improve newborn screening and diagnosis of MPS. Note that no new blood work or lab tests are necessary to participate. The analysis is accomplished with samples that already exist.

Participants Needed

The study is seeking participants with the following syndrome types: MPS II, III (all subtypes), IV (all subtypes), VI and VII.

Call to Action: To participate, follow the link for more information here

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