Understanding the data, understanding the disease: Rethinking rare disease research

By Maggie Lynch

- Last updated on GMT

(Image: Getty/BrainAJackson)
(Image: Getty/BrainAJackson)

Related tags Rare disease Clinical research Clinical research services Fda Data collection Data RWD Clinical trial Clinical trial app

Sharing clinical trial and research data for rare diseases is imperative for drug development and disease understanding, says industry expert.
Alex Sherman Mass General
Alex Sherman (Image: Massachusetts General Hospital)

Outsourcing-pharma (OSP)​ spoke with Alex Sherman (AS),​ a principal associate at Harvard University, and director of the Center for Innovation and BioInformatics at the Neurological Clinical Research Institute of Massachusetts General Hospital, in preparation for his presentation at Bridging Clinical Research and Clinical Health Care conference in Washington, DC next week.

Sherman will be speaking on the topic of rethinking clinical data from rare diseases to precision medicine.

OSP: What are some ways in which the industry needs to "rethink" clinical research data for rare diseases?

AS:​ There are thousands and thousands of rare diseases with fewer than 200,000 patients in the US; that’s the official definition. Only a small percentage of patients participate in clinical research, not just in clinical trials, but in clinical research. Usually on 1-3% of patients participate in clinical research, in rare diseases it may be up to 30%.

In order for us to understand the disease or treat the disease, we need to have a lot of data, and a lot of data is required from several points of view. One, you need to understand the pathways and the biomarkers and to understand how the disease works, what’s occurring, why it starts, etc. That’s purely for the drug development point of view.

But then, we need to prove to the Food and Drug Administration (FDA) that a drug works, and for this, we need to have validated outcome measures. The FDA takes this outcome measure as the possible approval of a new drug.

We need to figure out how to make each data point, image, DNA, patient-reported outcome, to be counted and shared and distributed to anyone who wants to treat or find treatment for a specific disease.

OSP: How can data be readily and securely shared with researchers for continued drug development?

AS: ​Let’s first agree that it’s a good thing that they’re shared. The second thing to consider is how they are shared.

For example, in an ALS study, we went to pharmaceutical companies and asked them to donate data from clinical trials in ALS. We ended up with 23 clinical trial data sets – that’s a lot, about 11 thousand patient records from these clinical trials.

Companies, to our surprise, gave us their data for free to be shared, anonymously, but to be shared with anyone who wants to study this disease. It took us an enormous amount of time and effort to put this all together, but eventually, we put it all together and now it’s the largest freely available dataset available in the world. Anyone who wants to study the disease downloads the data.

OSP: Can you elaborate on how this data be shared more easily?

AS:​ One thing is that there should be goodwill to share. So, technology is one thing, goodwill is the second thing.

The third thing to consider is regulatory actions: Are you allowed to share? Who is the owner of the data?

The politically correct answer is that patients are the owners of the data and we only control the data or host the data, but in general, a lot of institutions in academia treat patient’s data as their property, institutional property.

OSP: How do regulations affect the sharing of these data points in rare disease research?

AS: ​When it comes to regulations like GDPR, it is not a limitation but an instrument for us to share data. There are two things that GDPR tells us. First, it says that patients have the right to demand their data to be erased, it’s called the right to forget. Interestingly enough, data from clinical research is exempt, as it is considered to be beneficial to the greater good.

Secondly, patients, according to GDPR, are allowed to demand or request their data to be sent to anyone in electronic format within a reasonable timeframe. So, if a researcher does not share its patient’s data, in theory, a patient could ask their researcher to send your medical records to me and according to GDPR that researcher is obligated to comply.

If you look positively and creatively at what’s in those restrictive, or initially restrictive laws and regulations, in general, you can find more ways to share than before.

OSP: How can the industry improve clinical research and its use of data?

AS:​ We say the industry is not a homogenous animal, but there are thousands and thousands of companies that are interested in a specific disease or within a subpopulation of a specific disease. So there isn’t such a thing as the industry coming with a single demand towards clinical research data, and that’s unfortunate.

What I do see, is that there is a lot of pressure from companies that are planning to do small open-label trials. They are interested in sponsoring those natural history studies in this specific disease or specific population. That’s very important because now they understand that they don’t have to have a control arm in their clinical trial, which could improve the enrollment because patients will be ensured they will be receiving the drug.

Secondly, data will be of a much higher quality if they can control the quality of these natural history’s. So, they can sponsor these natural histories on par with how they can sponsor clinical trials.

Another trend is sponsoring natural histories of bigger diseases because it will allow us to do several things. It will improve recruitment, so you can approach a site instead of hiring external agencies that may not be specified on the rare disease.

If the industry supports a specific disease’s natural history we may have outcomes, outcome slopes, for individual patients before they enter a clinical trial. In this case, we can see individual responses instead of group responses to the trial. This is enormous. 

Alex Sherman currently holds the role of principal​ associate in Neurology at Harvard Medical School. He is a co-founder of ALD Connect a medical research consortium, the director of Strategic Development and Systems at the Neurological Clinical Research Institute. Within the Neurological Clinical Research Institute, he serves as the director for the Center for Innovation and Biomedical informatics as well. 

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