Let’s Prepare Ourselves for the Trials of a Lifetime

Research and clinical trials

Science is closer than ever before to finding treatments and cures for many rare illnesses. An important topic that I’d like to address is the process of research and clinical trials. This is an area in which we can all help scientists as they develop interventions. I will speak about my personal experiences in getting involved with research, as well.

One of the reasons I started the LGMD2L Foundation is to develop a registry for this rare illness. We have registered almost 60 individuals in our first year. The registry provides a list of people with LGMD2L to reach out to when we reach the point where we need to find participants for trials.

The purpose of a clinical trial is to test a possible treatment for an illness. Researchers work for many years to understand how an illness functions. Once they have an idea of the process, they can come up with potential interventions. They can conduct trials to see if the drug or intervention actually has a positive effect.

Clinical trials have several phases. The first phase involves administering the intervention to a few individuals, which helps assess both positive and negative effects. If the test is promising, then future trials may involve greater numbers of people.

My first experience

It is personally important for me to be a part of the process of finding solutions. As we look for treatments and cures, I want to be on the cutting edge, so to speak. Doctors diagnosed me with LGMD2L after the discovery of that mutation in 2010. This was several years after I started experiencing muscle loss. I knew that science was entering a new era of deeper knowledge about human DNA. I’d had one muscle biopsy during the process of identifying the illness, but I was now ready to delve further.

During this same period, I had also become a member of the brand-new National Community Advisory Committee of the Muscular Dystrophy Association (MDA). MDA is very impressive in its ability to fund research. I started to pay close attention to its grants, especially as they related to my illness.

As I followed MDA, I became aware of a grant it had awarded to a researcher looking specifically at LGMD2L to better understand the illness. I reached out to him and set up a three-way call that included my neuromuscular specialist.

Within a few months, I was in a room at the hospital where my neuromuscular physician practices, about 1,400 miles from where the researcher works. I had my second biopsy, this one from my right shoulder. This was a complicated procedure because of the layers of shoulder tissue that had to be cut through to reach the muscle. As with the first biopsy, despite being fully awake, I had no pain until the physicians reached the muscle. They did not use anesthesia on the muscle tissue for fear of damaging the cells. The shot of pain was like an electrical spasm, but it was over in an instant.

The specimen was put on ice, rushed to the airport, and flown to the researcher’s university. I learned that my cells would be made “immortal.” It’s been a couple of years, and the researchers continue to harvest my muscle cells. We are learning from studying them, and each step along the road to discovery is important.

My second experience furthers my commitment

In January of this year, I had the opportunity to take part in a new study. This research, conducted in Belgium, looks specifically at LGMD2L. I went through two days of testing. The first day consisted of a full-body MRI and the second focused on obtaining three needle biopsies. Each of the biopsies came from a thigh muscle at a different level of strength/weakness.

The study has 30 participants: 15 with LGMD2L and 15 without (the control group). This study will follow each participant for three years, taking annual MRIs. The muscle cells from the biopsies will also be analyzed. The aim is to find out why certain muscles stay strong while others waste away more quickly.

The importance of getting involved

While I realize my degree of involvement is not for all, there is another real opportunity for influencing cure research: I want to make sure we can get everyone with a neuromuscular disease on a registry. If interested in further involvement, you can get that. I recommend that you follow the news (see my column on communities) and reach out to researchers to see where they may need people.

As always, I’d love to talk more and hear your thoughts. I am also on Twitter (@ralphyaniz). I hope we can spread the word on the importance of clinical trials.

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