Lindy had a conversation finally with Dr. Orchard, who is running the clinical trial we visited Minnesota about. He said that he didn’t feel that the bone marrow transplant would be in Armand’s best interest. Because of the limited data showing any effectiveness of the transplant, and the extent to which the trauma that the procedure affects his body, he wasn’t sure that the transplant wouldn’t do more harm than good.
We’re not 100% sure where we go from here. Back in January Armand had a muscle biopsy as part of the testing for his diagnosis. Dr. Orchard said he plans to test any remaining tissue to find the exact genetic mutation that Armand has, and use that to find alternate treaments. Also, the AIM therapy offered by Dr. Whitley, the geneticist in Minnesota, is also an option — the issue there is financial. Insurance might cover the “active ingredient” of the cocktail of medications they would use, or they might not; and that’s the most expensive medication of the group, costing $30-40,000 per year that Armand would be taking it (which might be the rest of his life should a new treatment/cure not come along).
Another option for future consideration is chemical chaperone therapy. When Armand’s body produces some of the enzyme he needs, sometimes it is “misshapen” in a process called protien folding — the cell itself doesn’t recognize the enzyme and destroys it as an invader, which is part of the reason he doesn’t have enough in his body. A synthesized molecule N-octyl-4-epi-β-valienamine (NOEV) is given orally, is able to cross the blood-brain barrier, and attach itself to the broken enzymes so they may take their proper shape, and continue with their work on breaking down the lipids necessary for proper biological function. This therapy has been shown to have some success in mice, but as Dr. Orchard put it, it’s “not ready for prime time yet”.
There is a video that may better explain this therapy here.
The other distant option is gene replacement therapy. In this treatment, adeno-associated viruses (AAVs) are injected carrying proper DNA. When the virus, which has no known pathology (meaning it hasn’t been shown to cause any disease in humans, so there is very low immune response) infects the brain cells, it infuses the cells with its own DNA — which would have a healthy genome helping the body produce healthy enzymes. There are already trials using this treatment in patients with Alzheimer’s, cystic fibrosis, muscular dystrophy, and Parkinson’s, but not yet for GM1.
Both of these treatments have had some promise in mice, but haven’t reached human trials yet. So for right now we’re in a holding pattern as far as treatment. We have expressed to Dr. Orchard that we were not looking at the transplant as a single option, nor were we looking at it as a cure — as the tag line to this blog states, we’re looking for more time. We’re trying to stave off the progression of this disorder, especially as it affects him neurologically, until something better, stronger (faster?) comes along, ready for prime time.
Here is where I would try to photoshop a picture of Armand’s face superimposed over Deion Sanders.