Adrenoleukodystrophy

Treatment

What are the first steps after an initial diagnosis of X-linked adrenoleukodystrophy?

The following evaluations are recommended after an individual is diagnosed with adrenoleukodystrophy:

  • Neurologic examination
  • Brain MRI
  • Adrenal function tests
  • Medical genetics consultation
References
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More Treatment Content

Is there a treatment for X-linked adrenoleukodystrophy?

Does anything make adrenoleukodystrophy worse?

If a newborn is diagnosed with X-linked adrenoleukodystrophy what should be done after birth?

How often will my child need to be screened for X-linked adrenoleukodystrophy before any symptoms are noticed?

Can a woman still breastfeed her baby with X-linked adrenoleukodystrophy?

Why do you wait for early signs before offering a boy with X-linked adrenoleukodystrophy a stem cell transplant?

Are there symptom specific treatments for adrenoleukodystrophy?

What management is available for men with adenomyeloneuropathy (AMN)?

Is there a treatment for X-linked adrenoleukodystrophy?

There are treatments available for X-linked adrenoleukodystrophy. Specific treatments depend on what symptoms are being exhibited. If the adrenal glands are not functioning well, corticosteroids will be supplemented. This is essential and can be life-saving. This will be monitored by an endocrinologist (doctor who specializes in hormones).

Physical therapy can be used for patients who have difficulty walking, such as those with the adenomyeloneuropathy type of adrenoleukodystrophy.

In boys who exhibit early signs of brain changes hematopoietic stem cell transplant (HSCT) or bone marrow transplant might be an option. This therapy is for boys who show very early signs of neurological involvement on MRI, but who don't have extensive neurological impairment, and have a normal clinical neurological exam. HSCT has risks of its own, with a morbidity and mortality rate (the risk of death or serious illness) of 20%. Finding a suitable donor can also be challenging. In boys with do undergo stem cell or bone marrow transplant, only 30-35% of them will go on to develop childhood cerebral disease.

Lorenzo's Oil is an investigational treatment for boys with adrenoleukodystrophy. This oil, a mix of erucic and oleic acids, along with a low-fat diet, is used to reduce the very long chain fatty acids that accumulate in adrenoleukodystrophy. This therapy has showed promise in the prevention of the cerebral childhood manifestation, but it is not approved by the FDA and is still considered investigational. To find a metabolic dietitian specializing in diets for people with metabolic conditions and who can discuss with you options for getting Lorenzo's oil, visit the GMDI Find a Metabolic Dietitian webpage.

Other potential treatments, such as gene therapy, are currently undergoing clinical trials.

References
  • Source: Helman, G., Van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., ... & van der Knaap, M. S. (2015). Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular genetics and metabolism, 114(4), 527-536.
  • Kennedy Krieger Adrenoleukodystrophy Fact Sheet. https://www.kennedykrieger.org/sites/default/files/diagnoses_disorder_related_factsheets/01-09_factsheet.pdf
  • Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/
Does anything make adrenoleukodystrophy worse?

There is nothing currently identified that makes X-linked adrenoleukodystrophy worse. Research suggests that other genes may play a role in making the disease more or less severe.

Some research has also suggested that a diet including Lorenzo’s Oil (a mix of oleic and erucic acid) may be beneficial to help reduce the likelihood of developing cerebral symptoms though it has not been clearly shown to reduce or slow symptoms. This oil is mostly used in combination with a moderately low-fat diet. The treatment is considered investigational at this time, and should only be done under close medical supervision.

References
  • Helman, G., Van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., ... & van der Knaap, M. S. (2015). Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular genetics and metabolism, 114(4), 527-536.
  • Raymond, G. Engelen, M., Kemp, S. (2016) Lorenzo's oil. ALD Database: Online database. http://www.x-ald.nl/treatment-options/lorenzos-oil/
  • Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015. http://www.ncbi.nlm.nih.gov/books/NBK1315/
  • Brose, RD, Avramopoulos, D, Smith, KD. (2012) SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes. J Neurol. 259(7):1440-7.
If a newborn is diagnosed with X-linked adrenoleukodystrophy what should be done after birth?

No immediate interventions are required if a baby is diagnosed with X-linked adrenoleukodystrophy after birth. Screening of the baby’s hormone levels and monitoring brain MRIs will begin at about 18 months to look for any early signs or symptoms.

How often will my child need to be screened for X-linked adrenoleukodystrophy before any symptoms are noticed?

If the child is not having symptoms of adrenoleukodystrophy, screening is recommended every 6-12 months so that the disease can be recognized at the earliest possible signs. This screening includes both MRI and monitoring adrenal function.

References
Can a woman still breastfeed her baby with X-linked adrenoleukodystrophy?

A woman would still be encouraged to breastfeed her baby with X-linked adrenoleukodystrophy to help provide needed nutrients and assist in early bonding.

Why do you wait for early signs before offering a boy with X-linked adrenoleukodystrophy a stem cell transplant?

Stem cell transplants (HSCT) are not offered before a boy exhibits early signs of X-linked adrenoleukodystrophy because stem cell transplants are not without their own risks. The stem cell transplant itself can have a mortality rate of 20-40%. Because of the variation in the degree of severity of symptoms it is recommended that boys do not undergo bone marrow transplant until cerebral (brain) findings are identified. Even at this point deciding to pursue a transplant is still a personal family choice.

References
  • Treating ALD. The ALD Foundation. http://www.stopald.org/treating-ald/
Are there symptom specific treatments for adrenoleukodystrophy?

Other specific treatments for X-linked adrenoleukodystrophy will depend on the patient’s specific symptoms. For example, therapies including physical or occupational therapy may help the patient deal with symptoms of pain or spasticity.

References
What management is available for men with adenomyeloneuropathy (AMN)?

Management for the adrenomyeloneuropathy form of adrenoleukodystrophy is typically symptomatic. This can involve physical therapy, management of urinary symptoms, and family or job counseling.

References

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