What is Lorenzo's Oil, and What Diseases Can It Help Treat?

Lorenzo's oil is a special formulation of extracts taken from two different oils. Lorenzo's oil helps treat adrenoleukodystrophy (ALD), a rare genetic disease.

Lorenzo's oil is a special formulation of extracts taken from two different oils. Specifically, it is made from oleic acid (extracted from olive oil) and erucic acid (extracted from rapeseed oil). Lorenzo's oil can be used as a treatment for adrenoleukodystrophy, though it is only helpful when it is taken before symptoms manifest. It does not work to reverse existing symptoms.

Adrenoleukodystrophy (ALD) is a rare genetic disease that more commonly affects males. People with this condition are unable to properly break down very long-chain fatty acids (VLCFAs).

Typically, fatty acids come from food. Once you eat them, they are absorbed into the intestines and sent to the liver to be broken down into chemicals, such as VLCFAs, that the body needs for energy or for other processes.

In people with adrenoleukodystrophy, though, the VLCFAs are not properly used and instead accumulate in the brain and bloodstream. Over time, they start to destroy the myelin sheaths that protect nerve endings in the brain, preventing these essential nerves from communicating with each other and the body.

Symptoms of adrenoleukodystrophy

Symptoms of this disease commonly first appear in male children between the ages of 4 and 10. Early symptoms may include:

• Social withdrawal
• Aggressive behavior
• Memory problems
• Difficulty reading and writing
• Trouble talking
• Difficulty at school

As adrenoleukodystrophy progresses, additional symptoms may include:

• Visual impairment
• Hearing loss
• Seizures
• Dysphagia (trouble swallowing)
• Lack of coordination
• Loss of speech

If left untreated, children with ALD eventually enter a vegetative state and die a few years after diagnosis.

ADL diagnosis

Early intervention for ALD is essential. If it is treated before symptoms present, they may never develop. If not, though, it is impossible to reverse neurological damage once symptoms start. 

One way to detect ALD before the onset of symptoms is through newborn screening. However, while screening for this illness is now recommended, it is only available in a few states.

To screen for ALD, doctors will test your baby's blood for elevated levels of VLCFAs. Genetic tests can also be performed prior to the onset of symptoms. Parents, children, and other relatives can be tested to see if they have the gene that causes ALD.

If symptoms manifest, your doctor will perform an MRI to assess any brain damage and run a blood test to look for elevated levels of VLCFAs to diagnose ADL.

Experts are not fully certain why Lorenzo's oil works in some cases to slow the progression of symptoms of ADL, though it appears to stop the body from producing VLCFAs, thus stopping the buildup of these substances in the body and slowing down the breakdown of the myelin sheaths in the brain. Since it treats this accumulation specifically, it's important to note that this oil does not have any effect on other diseases that also cause a breakdown of myelin, like multiple sclerosis (MS). Additionally, the oil cannot repair myelin once it has already been damaged.

Lorenzo's oil is still considered an experimental treatment by the FDA even though it was developed in 1989.

In fact, Lorenzo's oil did not follow the typical path of medical development. It was developed by two parents, Augusto and Michaela Odone, after their son, Lorenzo, was diagnosed with ALD. They did not have a medical background but were determined to find something to help their son. They conducted their own research, contacted experts, and reviewed experiments until they found a promising treatment: adding a certain type of oil to the diet. 

After this discovery, they had to contact more than 100 companies before they found one that was willing to produce the oil. Since then, it has been proven that Lorenzo's oil can stop the build-up of VLCFAs in the body.

The Odones named the oil after their son, who lived until age 30. Before receiving this treatment, he had not been expected to live past childhood. By the time the oil was discovered, Lorenzo already had irreversible neurological damage, but the hard work and research done by his parents have since helped other children with ALD.

The story of Augusto, Michaela, and Lorenzo Odone was even made into a 1992 film starring Susan Sarandon and Nick Nolte.

Since the development of Lorenzo's oil, scientists and doctors have discovered other effective treatments for ADL.

Gene therapy

Gene therapy is now FDA-approved for children with cerebral ALD who do not yet present symptoms. For treatment, doctors collect stem cells from your child's blood. They treat them with a harmless virus called Lenti-D that carries a corrected version of the mutated gene that causes ALD. They then use an IV to send these new cells into the body. Subsequent cell division then aids in the breakdown of VLCFAs and reduces ALD’s severe neurological symptoms.

This treatment is still in a phase III trial, which means it has been proven to be effective and is now being tested to see if it is more effective than any other treatments that already exist.

Stem cell transplant

This is a treatment that can be used on both symptomatic and asymptomatic children with ALD. The hardest part of a stem cell transplant, though, might be finding a match. The donor needs to be a relatively close genetic match with the same type of DNA markers. Typically, siblings are the most likely candidates, but even a sibling has only a 25% chance of being a match. If no relative is a match, searching for people from the same ethnic group is the next step.

If a match is found, the transplant recipient needs to undergo chemotherapy, inhibiting their immune response so their body will accept the stem cells more readily. Even after the stem cell transplant, though, ALD symptoms will continue to progress for anywhere from six to 18 months before stopping due to the stem cells. Additionally, like Lorenzo's oil, a stem cell transplant cannot reverse neurological damage.