Validation of a newborn screening method for Cerebrotendinous Xanthomatosis

Project summary

Cerebrotendinous xanthomatosis (CTX) is a hereditary metabolic disease in which progressive physical and neurological symptoms develop without treatment. A simple drug treatment can prevent this. This makes CTX a suitable condition for heel prick screening in newborns. We have recently developed a heel prick screening method for CTX. With the current research we want to confirm that our method is suitable for heel prick screening on CTX.

This study is expected to show that our method is accurate enough to only detect patients with CTX and we get a good picture of how the method will function in practice. After this we will propose the method for addition to the Dutch heel prick screening program.