Current Treatment Research

Scientists are still searching for a comprehensive treatment for ALD—an option that would overcome some of the limitations and risks of stem cell transplantation and offer a wider therapeutic window than current transplantation or Lorenzo’s oil.

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Gene therapy

Mucomyst (acetylcysteine)

ALDR Upregulation

Mesenchymal Stem Cell Therapy

Myelin Restoration

Gene Therapy

One of the most promising treatments on the horizon for ALD is gene therapy. This involves temporarily removing the appropriate cells from the person with ALD, inserting the corrected genetic sequence—with the appropriate “blueprints” into these cells—and putting them back into the patient. The repaired cells will then produce the protein that had been missing or defective prior to treatment, and the disease process will halt or moderately reverse.

This is called “autologous” transplantation—removing cells from an individual and reimplanting them in that same individual. Because each person is their own donor, all of the problems and risks that arise from using an outside donor for stem cells can be obviated or significantly lessened.

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Advantages of Autologous Transplants

Allogeneic Transplants	Autologous transplants
Matching donors often cannot be found.	The person is their own donor, so no “match” is needed. There will always be a perfect match!
Weakening the patient’s immune system via "conditioning" (ablation / chemotherapy / radiation treatment) to prepare the patient to receive donor cells is leaves him with a severely compromised immune system, vulnerable to severe illness and from even a common cold.	Conditioning" should be much less severe since no foreign cells will be introduced. As a result, the patient will be better equipped to successfully face everyday immune challenges like colds, stomach bugs and viruses.
Cyclosporine, a medication commonly used in BMT and UCBT patients, further damages the myelin, compounding the devastation of the brain.	Cyclosporine will not be necessary, so no further destruction of the myelin is expected.
Graft versus host (GVH) disease is a common and potentially lethal complication following BMT or UCBT. This occurs as the donated cells may attack the recipient’s tissues and organs.	Graft versus host (GVH) disease is eliminated, since each patient will be his own donor.
Adults with cerebral ALD are typically not candidates for BMT or UCBT, because of the particularly lethal risk of GVH disease in these men.	If the patient requires therapy as an adult, instead of dying from advanced demyelination lesions, gene therapy will offer an option, since GVH will not be an issue.
Procedure is effective approximately 50% of the time, and has a mortality rate of up to 40%	A significantly higher success rate and considerably lower morbidity rate is anticipated with gene therapy.

Successful gene therapy would yield the same positive results of stem cell transplantation, for many more patients, with far fewer risks.

Early trials are very preliminary, but they appear promising so far. Two boys with ALD have been treated with gene therapy in France; the first received his transplant in September 2006, and the second in early 2007. So far, there have been no safety problems with the gene therapy transplants, but it will take 12 to 18 months before anything is known about how effective the transplants have been. This trial is expected to enroll two to three more boys over the next year. Participants in the trial do not have to be natives of France, but they must live in France; this treatment is not available in the U.S. at this time.

While gene therapy may be of great therapeutic value prior to the onset or at the early stages of ALD symptoms, it will not address the needs of boys who are only diagnosed after significant disease progression.

Mucomyst (acetylcysteine)

Other new treatment options, that may provide hope even after the disease has begun to ravage the brain, are also being studied. In early 2007, scientists from the University of Minnesota reported that treatment with a drug called Mucomyst (acetylcysteine), appears to provide protection from rapid neurological decline in the advanced form of ALD. (Bone Marrow Transplantation (2007) 39, 211–215. doi:10.1038/sj.bmt.1705571) (Mucomyst is generally used in the treatment of various lung diseases in which mucus makes breathing difficult.) Previously, boys with ALD as advanced as the three boys in this study had all died within a year of stem cell transplantation, but these boys saw their condition stabilize. This may mean that treatment with Mucomyst could allow a larger group of ALD patients, with more advanced brain damage, to successfully receive stem cell transplantation.

ALDR Upregulation

Other possibilities now being studied by scientists funded by the Foundation include ALDR upregulation, in which a gene very similar to the ALD gene, which already exists in a normal form in people with ALD, could be “upregulated.” By increasing the activity of the normal gene, we hope to be able to compensate for the deficiencies of the abnormal gene.

Mesenchymal Stem Cell Therapy

Scientists at St. Jude’s Hospital, the Children’s Hospital of Philadelphia, Tulane University School of Medicine, and leading institutions in Germany are also studying the use of mesenchymal stem cells in treating ALD. These cells are multipotent precursor cells that can differentiate into many different types of cells. Cultured from adults’ bone marrow, they may have promise in treating ALD when delivered directly into the blood and brains of people with the disease.

Myelin Restoration

The Myelin Project is pursuing research into therapies that could actually restore the lost myelin, potentially reversing the damage done by the disease. They are funding two avenues of potential remyelinating therapies: transplantation of myelin-forming cells, and drugs that would replace the lost myelin.