Currently there is no newborn screening for Duchenne in the United States. However, groundbreaking work from Jerry Mendell’s lab at The Ohio State University may have a hand in changing this.
Mendell’s recent pilot study was funded by the Centers for Disease Control (CDC) and was performed in Columbus and Cincinnati, Ohio. Mendell utilized dried blood spots from a single infant heel stick obtained 24-48 hours after birth, now used for newborn screening for other conditions, to develop a 2-step screening process for Duchenne. First, the blood was tested for creatinine kinase (CK), the enzyme released from muscle when it is damaged. (A high CK is generally the first indicator that the child may have Duchenne, and has been thought to always be high in the newborn period due to the trauma of birth.) Mendell found that, even if CKs were slightly elevated, very few infants had CKs elevated above 750 U/L. Second, those few with CKs above 750 U/L received DNA screening for Duchenne, using the same dried blood spot. Results found that, of 37,649 males, only 308 had CK’s elevated above 750 U/L. Of these 308, 10 had CK’s above 2000 U/L. 6 of those 10 were found to have Duchenne gene mutations (single or multi-exon deletions, 5 out-of-frame and 1 in-frame). All 6 infants who were positive for Duchenne were found to have CKs above 2000 U/L. Infants with high CKs who were negative for Duchenne, were tested for the most common limb-girdle muscular dystrophies. Three were found to be positive.
This 2-step process was found to be compatible with maternity and newborn medical care in the US:
While there were limitations with this, as with all studies, Mendell’s research may well provide a pathway for implementing newborn screening for Duchenne. As our research community continues to develop new therapies for Duchenne, having earlier diagnoses may ensure earlier implementation of these new therapies, improving the outcome for our boys. Jerry Mendell’s lab is to be commended for this amazing work.
Kathi Kinnett RN/CNP is a friend of this community and someone you probably know from CCHMC, our Annual Connect Conference, and as one of the authors of the Care Considerations. We are so fortunate to have Kathi working with us on a variety of projects (as she has over the years), including this latest with newborn screening.
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