Diagnosis & Treatment
Diagnosis
A newborn screening card consists of filter paper used to collect blood from heel pricks of newborns. Once blood is collected, the card is sent to a state laboratory for analysis.
The test used to diagnose ALD, called the “very long chain fatty acid test,” is definitive for males. For males, testing is easy and can be completed in seven to ten business days.
For females, that same test is only 80 percent accurate, so a DNA-based blood test is needed for confirmation.
If the blood test suggests X-ALD, an MRI will be performed in order to access cerebral involvement. Adrenal insufficiency is a common symptom of ALD so a blood test for this is necessary as well.
Prenatal testing is available, with options including chorionic villi sampling (CVS) and amniocentesis.
In addition, there are in-vitro fertilization options to ensure that babies do not have the ALD gene. A genetic counselor can discuss these options with you. For test requisitions, visit Genetics Laboratories at Kennedy Krieger Institute.
Treatment
Hormone Replacement Therapy
At some point, most boys and men with ALD will develop Addison’s disease (adrenal insufficiency). Although this condition can be life threatening if untreated, it can be managed with a daily intake of steroids. If Addison’s is identified, patients must be closely monitored by an endocrinologist and will need hormone replacement therapy.
Lorenzo’s Oil
Lorenzo’s Oil is a 4:1 combination of oleic acid and erucic acid, extracted from rapeseed oil and olive oil. It has been reported to lower very long chain fatty acids in the peripheral blood to a normal level and may even prevent the childhood onset of the disease. Without the Oil, those very long chain fatty acids accumulate in the central nervous system. The inflammation created by this accumulation causes the myelin to be stripped from the nerves. This demyelination disrupts signals between the brain and other parts of the body.
Bone Marrow Transplant
Bone marrow or umbilical cord blood transplant is a treatment for boys with cerebral X-linked ALD. If a transplant is done early in the course of the disease, it can stop the progression of ALD. Though it has serious risks and is not an option for all patients, a transplant can be lifesaving and prevent severe disability for some boys with cerebral X-linked ALD. Unfortunately, all too often the disease is too advanced for this option.
Gene Therapy
Gene therapy is the new hope on the horizon to stop the progression of ALD. It is similar to stem cell transplantation, but instead of using cells from a donor, this procedure uses the patient’s own stem cells that are genetically modified to insert a functioning copy of the gene involved in ALD. A global Phase II/III clinical trial is currently enrolling patients. Please visit ClinicalTrials.Gov and Starbeam Study.
