TREATMENT

It is treatable?

Through ALD Newborn Screening, affected children have the opportunity to benefit from lifesaving treatment. While treatment through a cord blood/stem cell transplant can slow the progression of the disease, it is not considered a cure. Unfortunately, myelin that has already been damaged cannot be repaired by this treatment. This is why it is important for ALD disease to be detected as early as possible before symptoms begin, ideally through each state including ALD in their newborn screening program.

Adrenal Insufficiency or Addison’s Disease

90% of boys with ALD will also have adrenal insufficiency or addison’s disease, which occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. Adrenal hormones, such as cortisol and aldosterone, play key roles in the functioning of the human body, such as regulating blood pressure; metabolism, the way the body uses digested food for energy; and the body’s response to stress.

While ALD usually does not present before the age of 3, Adrenal insufficiency can present within the first year of life and therefore it is extremely important to test blood ACTH and cortisol levels. Adrenal insufficiency can be treated easily by replacing or substituting the hormones the adrenal glands are not making with daily steroids. The dose of each medication is adjusted to meet the needs of the patient.

Problems can occur in people with adrenal insufficiency, who have an illness, suffer an injury, or are undergoing surgery or sedation for a medical test. To prevent an adrenal crisis, which can lead to death, the dosage is increased to allow the body to handle the additional stress. People with adrenal insufficiency should always carry identification stating their condition, “adrenal insufficiency,” in case of an emergency, as well as the supplies necessary to administer an emergency corticosteroid injection.

 

Bone Marrow Transplantation

Once a boy is diagnosed with cerebral ALD, it is crucial to undergo prompt evaluation in order to evaluate eligibility for a bone marrow transplant. It is crucial for a boy to undergo bone marrow transplantation at the earliest signs of the disease. A “Loes Score” is a system used to distinguish how far advanced their ALD is and if they are eligible for transplant. A “Loes Score” of less than 9 and closer to 1 has shown to have the most optimal results when considering bone marrow transplantation. For a cord blood transplant, stem cells come from umbilical cords that are donated and stored after live, healthy births of unaffected donors. To learn more about donating your baby’s umbilical cord, please visit the Carolina Cord Blood Bank.

For AMN

For men with adrenolmyeloneuropathy methods of care consist of rehabilitation therapy, symptomatic medications for pain and stiffness, creating a diet and exercise regimen for ideal health. There are also clinical trials for developing medications that may be useful.

For Women Carriers

Diet and exercise have shown to help women with ALD.

Gene Therapy

Bluebird Bio, a company located in Boston, MA  has conducted a clinical trial for ALD gene therapy. 17 boys with ALD have been treated with gene therapy with promising results. The first results have been published and the gene therapy treatment is very promising to be the next, safer method of treatment for ALD. Gene Therapy for ALD has yet to go through FDA approval. Gene Therapy would be the preferred method of treatment for ALD (once FDA approved) as there is no need to find a donor match in the bone marrow registry. Due to using the boys’ own cells there is no chance of rejection, as there may be with bone marrow transplantation.

For more information:
Bluebird Bio
[email protected]

https://www.bluebirdbio.com/patients-families/gene-therapy/

 

http://www.nejm.org/doi/full/10.1056/NEJMoa1700554