NEWBORN SCREENING TEST 

X-linked adrenoleukodystrophy (ALD) is a genetic disorder occurring in 1 in 17,000 newborns. All ethnic groups are affected about equally. 

The disease causes a progressive loss of brain white matter and loss of adrenal gland function in boys who have the gene. It strikes previously healthy boys beginning school or young men just starting out in life. Over a third of boys with the biochemical abnormality will show symptoms in childhood. Without treatment, they will be severely disabled within a few months and will die in childhood.

There are effective therapies for ALD, including replacement of adrenal hormones, bone marrow therapy for early brain disease, and the investigational use of Lorenzo’s oil. These therapies work best if started before symptoms develop. 

Until now, diagnosis has relied on the identification of an affected individual and then the systematic testing of the extended family. However, recent developments promise earlier, broader detection of this disease.

We have recently developed a method to test newborn babies for ALD. Blood spot cards are already collected from nearly every baby born in this country. We can screen these blood sppots for the fatty acids found in persons with the ALD gene. This method holds the promise of being an accurate and reliable tool in the early detection of this condition.

More work is needed before this can become a reality. Our group is presently focused on confirming that the test will identify all affected individuals. In addition, we must minimize the risk of misdiagnosis in those who do not have the condition. We hope to pilot a limited field evaluation in the State of Maryland and possibly elsewhere to determine performance. Then, with the help of others, we will automate the test so that the thousands of samples can be routinely handled using existing machinery.

Both the Myelin Project and the European Leukodystrophy Association have helped finance this work. So far, The Myelin Project has contributed $50,000, but more is needed. Without the field evaluation, newborn screening for ALD will not happen. The National Institute of Health told Dr. Raymond that there are no funds available to cover the $500,000 costs. Dr. Raymond, Ms. Ann Moser and Dr. Walter Hubbard have nearly finished an amazing piece of work that will make it possible to find boys carrying the ALD gene, before they get sick. We have effective treatments for these boys, but only if they are identified early. It is in our power to prevent childhood ALD by early detection and treatment. With your continued support, we will.