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NEWBORN SCREENING FOR METACHROMATIC LEUKODYSTROPHY

After nearly a decade of work, an MLD newborn screen has been developed, tested in de-identified pilot studies, and will shortly be entering identified baby pilot studies.

The current screening flow consists of three in-lab screening tests … blood sulfatide levels, ARSA enzyme levels, and genomic sequencing … to try to eliminate false positives before the family is notified.

ANNOUNCEMENTS

All Focus Working Groups launched in July.  We want and need your inputs … click here to learn more and see the upcoming meeting dates.

The RANSIP program program overview and video are here. Learn about the MLD Newborn Screening initiative, and how you can share your thoughts and inputs for the clinical care & therapeutic decision tree and family notification process, the content of this web page, and more …

Click to register!

THE NUMBERS SPEAK

1: 0
Births is a MLD baby

We see this incidence worldwide – with some people groups having a much higher incidence

0
MLD births worldwide ... each year

Most are misdiagnosed or diagnosed only after symptoms – when therapies do not work.

Half will be the late infantile form that needs treatment in the first few months of life.

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US MLD babies per year

Newborn Screening will allow every one of the babies to be identified and offered effective life changing therapies.

HAS YOUR BABY SCREENED POSITIVE FOR MLD?

Identified baby newborn screening has not started for MLD.  This section is being developed and will be updated as a resource to guide and support families before identified NBS  starts.
  • What is MLD? MLD-101 … Learn more about MLD here
  • Screening and Diagnostic confirmation … what’s the difference?
  • Next steps … clinical care and therapeutic choices
  • other resouces and information

If you’re wondering why your baby was NOT screened for MLD, here’s why and what you can do about it:

MLD Newborn Screening is not yet available in most places. Limited coverage pilot studies are starting soon. In the meantime, we are organizing and empowering a worldwide network of concerned families to call on and help their local public health systems implement MLD Newborn Screening. Click to help!

Do you suspect your baby has MLD?  Does MLD run in your extended family?

  • If you are in the US and suspect MLD you can no-cost genomic sequencing (link coming)
  • Anyone can access paid blood and urine testing … or paid genetic sequencing (links coming)
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It Takes a Collaborative Effort to Implement MLD Newborn Screening in the United States and Around the World

The successful implementation of MLD Newborn Screening is collaborative effort of a large number of biochemists, clinical researchers, pre-clinical researchers, biopharma, advocacy organizations, ethicists, policymakers, public health, the general public, and many many more parts of the MLD and NBS ecosystems.

WHAT’S THE STATUS OF MLD NEWBORN SCREENING?

The ScreenPlus Program, the first identified baby newborn screening pilot study in the US, was scheduled to launch in May 2020, but the COVID-19 pandemic has put all non-essential research programs in New York hospitals on hold. We expect the delay to be several months, but are uncertain, as of April 2020, as to an exact start date.

ScreenPlus is a unique collaboration of the NIH, NY hospitals, biopharma, and patient advocacy. It is still expected to  be the first of several “live” pilots that will be launched in the US and internationally to formally validate the screen in public health.  

Data collected by these pilots will be used for the RUSP nomination and to launch MLD newborn screening in other states and countries.

Keep Me Updated

HELP BRING MLD NEWBORN SCREENING TO YOUR  STATE, PROVINCE, or COUNTRY

Join to help implement MLD newborn screening around the world.  Each state, province, and country has different requirements and obstacles.  Only by working together can we get this done! Please sign up to be kept updated and/or to contribute to the implementation of this important project.

I WANT TO HELP

RUSP NOMINATION

The United States has a very comprehensive evidence-based federal review process that leads to a RUSP nomination and approval called the RUSP – Recommended Uniform Screening Panel.

The RUSP nomination package addresses aspects of laboratory, public health, therapeutic options, ethics, cost, screen accuracy, and many more topics.  This information will be provided to pursue the implementation of MLD newborn screening in other countries.

Experts have met to define the framework and process to prepare the Nomination.

There will be numerous opportunities for input from all stakeholders (clinicians, advocacy, families, researchers, biopharma, etc.) as the various RUSP Nomination topics are addressed.

learn more …

IT'S COMPLICATED

1: 0
Are carriers for MLD

If there is one case of MLD in your family then statistically 50% of your relatives in some branches of your family tree might be carriers. Carriers have a 1 in 100 chance of finding another carrier to be there partner/spouse. 

When the RUSP was formally adopted in 2005 many states were screening for only 6 conditions – today the states are all screening for  at least 30 of the 35 conditions.

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Unique US Screening Programs

In the US, newborn screening is part of each the 50 US state public health sytems, plus the 5 US terrritories and US military.

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Conditions on the RUSP

The RUSP (Recommended Uniform Screening Panel) is a federally recommended list of carefully reviewed conditions suggested for state implementation. We’re working hard to have MLD be added to the RUSP!

When the RUSP was formally adopted in 2005 many states were screening for only 6 conditions – today the states are all screening for  at least 30 of the 35 conditions.

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Acknowledgements

Success implementing MLD Newborn Screening requires collaboration. MLD Foundation, a 20+ year old organization focused on serving the global MLD community, is leading the effort and will engage the entire MLD and NBS ecosystems at all stages of the process.

Join the Movement!

"Of the 4 million annual births in the United States, about 6,400 newborns per year currently benefit from the early detection of today's newborn screening programs. When we start screening for MLD, 100 more – those with MLD – will have a chance for a normal life, too."

WHAT IS MLD?

Newborn Screening is a pretty good indication, but its not a formal diagnostic confirmation.  A quick and simple blood and urine test is required to formally confirm or rule out MLD.

Learn more about the next steps for diagnostic confirmation here.

Learn More About MLD here.

HAS YOUR BABY BEEN CONFIRMED WITH MLD?

Are you searching for information on therapies and treatments?

We know this is a time of great stress, concern, and uncertainty.  We suspect you are overwhelmed with information – some of it inconsistent and much of it very scary. We are here to help. 

We are MLD parents ourselves so we know what you are going through.  We’ve dedicated our lives to helping MLD families.

So much progress in therapeutic and clinical care has been made over the past few decades, but there are still many very personal decisions you need to make. There are many clinical and therapeutic paths and choices you can make.

We are here to help, provide resources, make introductions to experts, connect you with other families, answer your questions, and be a resource to your family as we walk alongside you on your MLD journey.  You are not alone!

Click here (coming soon) to learn about therapeutic and treatment options and to download our parent’s guide coming soon) for the newly diagnosed.

You can also feel free to email, phone, or text us! You will hear back from us quickly.