I learned that there had been a transgenic X-ALD mouse model for many years, and I kept hearing about the grand gene therapy trials that were right around the corner. Still, things were not happening as I would have liked. At the time (mid-to-late 90s), efforts were limited to re-purposing old medications; not exciting. Still, I readily volunteered for the few trials that I could find. The ones that I remember tried lovastatin and a couple different ways to use 4-Phenylbutyrate.
I went into these studies with great optimism, and I guess, naïveté. I was certain that these tiny experiments of 12 people would work and turn my disease on its head. None of them did.
By this time, I had been in the pharmaceutical industry over 5 years, and thought that I knew pretty much everything. I guess the problem was, in my roles, I had it easy, the hard stuff had already been solved before the compounds got to me. I was about to see some of the upstream grunt work.
In due course, I learned of a pesky roadblock: It was easy enough to measure VLCFA in the blood, but so what? Was it doing any good clinically?” If there ever was to be a decent study, they would need a validated assessment method. I leaped into this one, participating in a couple of experiments that could be parts of the solution:
- Punch biopsy of my lower leg to evaluate the extent of nerve demyelination
- Novel MRI method designed to measure the amount of myelin in my spinal cord
I guess they were doing a sort of natural history study, examining me to determine the clinical progression of my disease, while trying to match these findings to quantitative results of their experiments. Turns out that this process of finding valid endpoints is a tricky business.
Next up, “the motion study,” a slew of tests to assess strength, balance, coordination and sensory capabilities. In addition to traditional measures, it was a little high tech using a digitalization method borrowing some animation technologies. They would stick these sensors all over my body and point a camera at me. The result was digital stick figures mimicking my movement. Some genius coded a program that could then quantify range of motion from the representations with decent accuracy. Maybe not so cool these days, but nearly 20 years ago, this was cutting edge, or so it seemed to me.
It took nearly a day to go through all of the motion study assessments- I must have done it twice a year for a few years.
Finally, some good news: the motion study coupled to the new MRI method[1] seemed to show a reasonable ability to detect disease progression. Now the tools were there to run a study. This was the most progress that I had seen in the ten years since I had received my diagnosis. All that was needed was a drug to test.
[1] Fatemi A, Smith SA, Dubey P, et al. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology. 2005;64:1739-45
Walking the Rails 
Reblogged this on Survivors Blog Here Mental Health Collaborative and commented:
Back in the old days, I was pretty sure that a cure for AMN was just around the corner.
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Thank you for participating in all the studies. I am an affected woman. Symptoms began in my 20s. I thought not walking etc was terrible until I couldn’t speak clearly or at all and choked and passed out. Head gashes and all seem like nothing now.
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Dear Barbara
Thank you so much for your comment. I guess that in the past, I was chauvinistic in that I thought AMN was a man’s disease. Lately, I have been hearing more and more about afflicted women. How wrong I was. It sounds as if you are having a pretty rough go at it. While of course, there is no cure for this disease, I must ask, are you able to get the support that you need? I only ask because I want to learn and hopefully, make this site more inclusive. You are the first female patient that I have encountered.
Keep at it. Brad
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