CSO Corner Volume 11: Searching for Biomarkers

Hello fellow members of our KS family!

This month I’d like to provide an update on the COMBINEDBrain biorepository, to which many in our community have contributed samples.  What I want to you to know is: researchers are already using these samples! This is so exciting. As I discussed in a previous article, just making samples more readily available ensures that more research will be done on Kleefstra Syndrome.

But first there is an ask, if you are one of the families that have contributed samples: please log in to the biorepository site and fill out the surveys that go with the samples you’ve provided. I’ll explain below why this is critical, so please read on.

One of the ways these samples are being used is to contribute to a project to find potential biomarkers in neurodevelopmental disorders (NDDs). This project is a pre-competitive biomarker project for rare NDDs supported by the collaborative activities of Novartis Pharmaceuticals Corporation, Ultragenyx Pharmaceutical Inc., F. Hoffmann-La Roche Ltd, Biogen, Mahzi Therapeutics, Ionis Pharmaceuticals, Inc., Bial and COMBINEDBrain.

We haven’t previously discussed biomarkers, but the key concept is that they are something you can measure in person that tells you something about their health. A classic example is cholesterol levels in blood as a biomarker for possible heart disease (i.e. people with high LDL cholesterol are at elevated risk).

So why try to find biomarkers for NDDs? There are a lot of good reasons, but one is that, if you could find them, you might be able to use measurements of them to determine if a future therapy appears to be working. For example, imagine you find that a particular biomarker is high in those with severe KS symptoms, low in those with mild KS symptoms, and very low in healthy siblings. If that biomarker was reduced in patients by a drug in a future clinical trial, it would indicate that the drug was probably working. This type of data is very helpful when seeking approval for a new medicine from the FDA.

Because the KS community stepped up, KS is a part of the study above. We will have to be patient as these data are collected and processed by the consortium. But I, for one, can’t wait to see what they might discover!

And now back to the surveys. You may already see where these come in: In order to find biomarkers that don’t just indicate a disease, but also severity, we need to understand the health status (or phenotype) of the patients that provided the samples. Capturing patient phenotype, alongside blood and other samples, puts researchers in a powerful position to detect meaningful patterns in the data. So, if our community fills out all the surveys, there is even more potential for researchers to have success in learning new things about KS.

So once again, if you provided blood samples so the COMBINEDBrain biorepository, please login to the site¹ and fill out surveys assigned to you. The ones you should do first are the Vineland surveys and PEHLS surveys. These are the most urgent. But please do all the surveys as soon as you can.

Finally, for those who haven’t yet contributed samples to the COMBINEDBrain biorepository², stay tuned, there will be an upcoming opportunity to become a part of this effort.

Until next time,

Eric Scheeff, PhD

IDefine Chief Scientific Officer

¹Important pro tip: if you have participated in both Rare-X and the COMBINEDBrain repository, first of all — you are the best! Second of all, they both use the same platform, called Matrix, to securely manage their data. When you log in to either Rare-X or COMBINEDBrain with the same email address, you will use the same password for both, even though the URLs are different. Don’t get confused by this (like I did!).

²Note, this is the COMBINEDBrain repository. If you contributed samples at this year’s North American Kleefstra Syndrome Family Conference, those were for the Simons Searchlight repository, which is a separate opportunity. I’ll be returning to the Simons repository, which is also very important, in a future article.