CWWeekly presents this biweekly feature as a spotlight on issues that executives in clinical research face. This week, writer Suz Redfearn spoke with Can “Jon” Özbal, president and CEO of PureHoney Technologies, which uses the high-throughput mass spectrometry platform to perform analysis of challenging analytes across a broad range of therapeutic areas.

Q: You’ve said that patients and trial participants with rare genetic disorders are often diagnosed far too late to have any meaningful effect. Can you expand on this issue?

A: Every baby born in the Western world recieves a battery of tests for various well-known diseases. For example, babies are checked for the condi­tion Phenylketonuria (PKU) by looking at a baby’s levels of the amino acid phenylala­nine. Though there are biomarkers that are fairly well understood, such as a missing enzyme that causes Tay–Sachs disease, there are dozens of rare diseases for which there is very limited or no testing being done on newborns.

We know rare diseases tend to affect metabolic pathways, and a look at a handful of biomarkers can diagnose diseases. Most of these diseases are currently treated by enzyme replacement.

Currently, we can conduct many diagnos­tic measurements, but they are expensive and slow. The expense of those diagnostic measurements can be incredibly challeng­ing for a hospital or clinic. There would be great, immediate impact if there was a quick, cheap intervention available to help diagnose rare diseases in newborns before significant clinical damage is done.

This then becomes a technology platform issue. Do we have the technology to perform newborn diagnostic testing for rare diseas­es? Is it available to us at a cost and through­put that allows us to scale up and test tens of thousands of newborns?

New York State mandates testing for Krabbe disease, an often fatal degenerate disorder of the nervous system. This is one of the few examples of mandated testing for a rare disease. This area of genetic testing is one that our company is interested in pro­viding potential impactful solutions.

Q: Dosing of drugs in clinical trials is mostly done based on the height and weight of the subject. Why do you feel this may not be the best method?

A: I think there is a gap. We are tracking these drugs to make sure patients are getting an efficacious dose. For example, if doctors know what illness a patient has, they can administer a specific amount of the drug based on that patient’s height and weight. Once that has been done, absorption rates should be checked to make sure the rate is correct and that no adjustments need to be made. Tests like this already exist for many drugs as they pertain to clinical chemistry analyzers. But if the test needs to be run on a mass spectrometer, the samples need to be sent to a reference lab and patients have to wait 48 hours to get their results. Often by the time the test result arrives, either the doctors have estimated correctly and the patient is better, or they’ve estimated incor­rectly and the patient is dead.

Onsite rapid testing would be useful— perhaps a device that could easily take a blood sample and 20 minutes later present the doctor with an actionable piece of infor­mation that says the patient has too much or too little of a drug in their system and a dose adjustment is necessary. We want to bring these measurements out of the central refer­ence lab and into the hospitals. Our aim is to get some feasibility assays in place, and then partner with a sponsor to commercialize our platform.

Q: How does this tie into research?

A: In the research world, where I have spent most of my career, clinical trial sup­port is not necessarily time-sensitive. However, a machine that could quickly test the level of a drug in someone’s blood could live at a clinical trial site. Blood could be collected from a couple hundred patients, and instead of shipping thousands of samples all around the world to get them analyzed, you could analyze the patient in real time. The patient could also be moni­tored, and if something is amiss—if they missed a dose or they don’t have any of the drug in their blood at all—it will be known right away and that patient will be flagged. The quality of the trial could improve by intervening with dosing in real time. If you had that machine on site, you could better manage that patient on that drug. You could manage the safety of it, and track drug in­teractions in real time. Safety, as well as the trial, could be improved.

Our approach is not to reinvent the wheel, but to take the technology that already exists and put it in a black box that makes it easy for anyone to use. The idea is to take approaches that presently require master’s and Ph.D.s in labs and decentral­ize that into the world of clinical trials and hospitals.

This article was reprinted from Volume 20, Issue 27, of CWWeekly, a leading clinical research industry newsletter providing expanded analysis on breaking news, study leads, trial results and more. Subscribe »