Slanted Science

ALD, or Adrenoleukodystrophy, is an inherited neurodegenerative disease. Patients’ bodies are unable to break down certain types of fat molecules, and these accumulate to toxic levels in cells of the brain and spinal cord. Those cells gradually die. Thus far, there is no cure.

But scientists have just released details of an apparently successful trial of a new approach in the treatment of ALD: gene therapy.

The work is reported in the journal Science, one of the very top tier of scientific journals, and was conducted by an international team headed by Patrick Auborg.

Let’s first look at the problem. The LA Times quotes Florian Eichler, an ALD expert:

[At the age of 5]… a really catastrophic process of progressive, relentless demyelination [of the brain] sets in that leaves them vegetative or dead within one to two years. This is as bad as neurological disorders get.

Scientists already knew the cause: boys (and only boys) can inherit a defective version of a gene called ABCD1 from their mother. This faulty gene causes the buildup of toxic fats in brain cells.

Until now, the only possible curative agent has been the famous Lorenzo’s Oil, though this is contentious and only of use (if at all) when given to children before they develop any symptoms (remember, that is possible because this is an inherited disease which only affects boys; so if the child’s mother carries the responsible gene, then it is possible to treat her sons before symptoms appear).

What these boffins have done is to extract some of the patients’ bone marrow cells, and then use a harmless virus to carry a new, working version of the ABCD1 gene into the extracted cells. The cells were then replaced back into the same child, and the newly delivered gene began spitting its protein into the bloodstream where it could break down those toxic fats.

They report a follow-up period of two years in their study, during which protein production by the bone marrow-derived cells reduced, but seemed to remain effective in halting the disease.

The research reports the results from only two boys treated (though the group has recently included a third into the trial). So, it is preliminary.

However, as proof-of-principle, and as a literally life-saving intervention in the young boys, it is an awesome result.

Don’t Hold Your Breath, But This May Lead To: well, we can only wish everyone involved the best of luck in further trials of this treatment. The best outcome is obviously curing/halting this terrible childhood disease,