Building a Coalition to Drive Early Diagnosis and Hope

Most MPS II (or Hunter Syndrome) patients are not diagnosed until between the ages of 2 to 4 years old, by which time the disease may have already progressed, resulting in irreversible symptoms and decreased life expectancy.¹

The good news is that we have diagnostic tools to help change this reality. MPS II is a rare, inheritable disease for which we have a genetic test that can be used to diagnose patients at birth. Unfortunately, not every state currently requires this testing – meaning depending on where the patients live, they may miss out on receiving a potentially life-changing diagnosis early enough for impactful action.²

At Takeda, we believe in the power of early diagnosis – and that everyone living with this condition should have access to screening to support better health and a brighter future.

A monumental national achievement

After more than eight years of effort and collaboration with our partners, including the National MPS Society, Project Alive and the EveryLife Foundation for Rare Diseases, we’ve made progress on the national level to prioritize early diagnosis of MPS II. Last year, the Advisory Committee on Heritable Disorders in Newborns and Children voted in favor of adding MPS II in the U.S. Federal Recommended Universal Screening Panel (RUSP). The RUSP includes more than 50 disorders recommended by the Department of Health and Human Services for universal newborn screening programs.3

“Adding MPS II to the national RUSP is a monumental achievement, but our work is not yet done,” said Ravi Pathak, Medical Director, Lysosomal Storage Disorders, Takeda. “We’re committed to working with our partners to ensure the recommendation is enacted on the state level – no matter how long it takes for all 50 states.”

Some states automatically adopt the national newborn screening recommendations; but most states must elect to add MPS II to its newborn screening panel separately. At this time, few states have added MPS II to their newborn screening panels.

This push requires a team effort. Advocates within the MPS II community and broader rare disease community are working together to ensure that all 50 states add MPS II to their newborn screening panels. This includes establishing coalitions to help pass auto-alignment legislation at the state-level, requiring states to include newly added RUSP conditions to their panels within a given timeframe.

“We put a tremendous effort into getting MPS II added to the national RUSP, but we aren’t done,” said Kristin McKay, Executive Director, Project Alive. “We have to implement testing in every state, and we need everyone in our community to help with this effort.”

Continuing to educate after screening

Simply adding MPS II to screening panels is not the only hurdle. MPS II is a rare disease, impacting one in 162,000 male births in the U.S.⁴ Most physicians have never seen a patient with this condition before, and many states lack specialists who can help families grappling with this diagnosis.

“Advances in newborn screening hold promise for many MPS II patients,” said Terri Klein, President and CEO, National MPS Society. “But with such a small patient population, many doctors aren’t well versed in MPS II and may not have the information they need to help families navigate their diagnosis. Educating healthcare professionals and families is a critical piece of widespread newborn screening adoption. The more everyone understands MPS II, the better the outcomes for these children.”

A coalition of partners is working on the state level to advocate for larger adoption by raising awareness, driving education about MPS II and continuing research to drive new therapeutic options. Takeda supports the efforts of these partners, including the National MPS Society, Project Alive and the EveryLife Foundation, to advocate for MPS II families and ensure timely diagnoses and access to care. The National MPS Society is also taking lessons learned from their RUSP experience with MPS II and applying them to future nominations for MPS VII, IV and VI.

Early diagnosis brings hope

While there is no cure for MPS II, there are management options available and ongoing clinical studies. Early diagnosis is vital to improving outcomes and quality of life for patients.

“We have seen babies diagnosed at or soon after birth due to family history of MPS II,” continued McKay. “Early intervention can help manage symptoms and delay the progression of this devastating disease.”

As champions of rare disease patients for more than 70 years, we’re focused on ensuring those with MPS II are supported every step of their journey. Help bring awareness to the need for screening access and implementation by sharing this article.

No child should miss out on a timely diagnosis because of where they live.

References

NORD. Mucopolysaccharidoses. Available at: https://rarediseases.org/rare-diseases/mucopolysaccharidoses/. Accessed April, 2023.
EveryLife Foundation. MPS-II. Available at: https://everylifefoundation.org/newborn-screening-take-action/mps-ii-also-known-as-hunter-syndrome/. Accessed April 2023.
NORD. Mucopolysaccharidosis Type II. Available at: https://rarediseases.org/rarediseases/mucopolysaccharidosis-type-ii-2/. Accessed April 2023.
Meikle PJ, et al. JAMA. 1999; 281(3): 249–254.