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Resources for Leukodystrophy Newborn Screening Advocacy

It is often helpful to be armed with information when approaching a Newborn Screening Advisory Board with a request to add a leukodystrophy. Though it may be hard to believe, it’s possible that many doctors have never heard of (or had a patient with) Krabbe Disease, X-ALD, or MLD, and even if they have it’s unlikely that they have stayed current with their data and research. 

Here is a website where you can find helpful publications from medical journals to read and share with decision-makers:  https://www.ncbi.nlm.nih.gov/pmc/ Simply search for “Krabbe Disease” or “MLD” or whatever your specific Leukodystrophy of interest may be, and a large number of journal articles will appear. It may help to refine the search by articles only from the past five years to ensure that the data is current.

PubMed Central® (PMC)

https://www.ncbi.nlm.nih.gov/pmc/ Simply search for “Krabbe Disease” or “MLD” or whatever your specific Leukodystrophy of interest may be, and a large number of journal articles will appear.

Links to example NBS legislation:

If you decide to pursue legislation, it can be helpful to your lawmaker to see an example of previous legislation for adding a disease to the Newborn Screening panel. Here are four examples from four different states that may be useful:

Links to other websites that may be useful for Leukodystrophy Newborn Screening advocacy:

Clinical Trials for Leukodystrophies:

X-ALD – Adrenoleukodystrophy:

Krabbe Disease:

MLD – Metachromatic Leukodystrophy:

CTX – Cerebrotendinous Xanthomatosis:

MSD – Multiple Sulfatase Deficiency Organizations:

Leukodystrophy Foundations and Coalitions:

Leukodystrophy Care Centers:

International Leukodystrophy Organizations:

Rare Disease Advocacy Organizations:

Current Newborn Screening Legislation: 

Newborn Screening Education: 

LDNBS Resources: 

Treatment Access, Reimbursement, and Gene Therapy: 

Rare Disease Resources

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