Grace for Rett » Grace's Life with Rett Syndrome

Medical Research: Discovery, Translational, Clinical [in plain English]

by Elizabeth Halford, with contributions from Steve Kaminsky, Ph.DJanice Ascano, Ph.D., Paige Nues and Kori Coates.

There are three streams of scientific research into Rett syndrome: discovery based research, treatment (“translational”) based research and clinical research. IRSF have an ongoing study into Rett syndrome via their Natural History Study which is a fantastic form of clinical research. We’d love to show you a video about it today, but first…

[WHAT DOES THAT MEAN?]

So now you’re probably thinking “what’s the difference between discovery and treatment based research?” Here’s what the IRSF’s Chief Science Officer, Steve Kaminsky, PhD had to say when we asked him the same question:

Discovery Based Research is focused on developing or proving a concept, while translational (treatment) based research is focused on putting a proof of concept into practice.

A simple analogy may help: discovery based research proved that a round object helped in moving heavy objects that could not be carried, while translational (treatment) based research demonstrated that wheels with axles were more efficient than rollers in moving heavy objects.

How about a medical analogy:  It was discovery based research that showed that AIDS was caused by a virus.  It was translational (treatment) based research that showed that a combination of drugs could slow down or halt the replication of the AIDS virus.

Now let’s apply this analogy to Rett syndrome:  In 1999 it was discovery based research that illustrated that MECP2 mutations were associated with Rett syndrome.  It is translational (treatment) based research that has shown what MeCP2 does so that specific therpaies can be developed.

Additionally, there’s another form of research taking the information learned from discovery and the practice created by the translational into something to actually test on patients with Rett. This is called clinical research. Again, in the words of Steve Kaminsky, “clinical research involves research conducted with human subjects and can include the use of new translational tools (molecular, chemical, or physical) directly with the patient.” Clinical research is taking the translational research findings and applying them to the actual people suffering from Rett.  Taking it out of the laboratory and into the clinic for our girls.  Clinical trials, such as IGF-1 and NNZ-2566, are this leap. But there’s one important pre-cursor to all clinical trials.  That is the clinical research that maps the course of the disorder so we know exactly what we’re looking to improve.  And this is where IRSF’s Natural History Study slots in to this picture.

See, we know that a MECP2 mutation or deletion can result in Rett syndrome, but we still have not truly and completely documented in a scientifically rigorous manner exactly what Rett syndrome is!  And that is our necessary clinical research, to benchmark for real change/improvement off of a clinical trial.  We as parents don’t even really know what Rett syndrome is, although we certainly know what it is not for our individual child.  Rett syndrome does not talk, walk, or eat easily, and sometimes it sleeps well, and sometimes it has seizures and sometimes it does not.  All of these “sometimes” become problematic for clinical trials, so the Natural History Study tightens that “sometimes” or “maybe” into a more solid “usually”.

The Natural History Study is not about clinical research using interventional treatment methods.  It is about making observations directly of the patients over time as new care is being developed. Why is this important?  A natural history study is the single best avenue to study the hallmarks of Rett and how these hallmarks progress over time. The fact that an isolated population can be followed in depth by the same group of medical specialists will unfold the obvious and subtle traits of Rett. Observing these traits over time gives rise to ways and ideas to address the biology associated with Rett.  Since the traits of Rett patients can differ from patient to patient, these in depth studies start to unfold patterns that otherwise would go unnoticed.

There is a great need for these different forms of research into Rett syndrome. While there may be a one-stop-shop reversal/cure out there, we also need to be gaining a better understanding about the condition. Rett syndrome is a very young diagnosis. It was only in 1966 that Dr. Andreas Rett first published a description of the syndrome to be named after him. And in 1999, the gene was found by Huda Zoghbi’s team to show what actually caused Rett syndrome. In the scientific world, 10 years is a very short time. Scientific research is a painstakingly careful and long process, especially for those so desperately wanting the results in their lifetime.

Is there going to be a cure for Rett syndrome? Of course! Absolutely! It’s out there somewhere. But I also believe it would be nearsighted to focus only on research into complete reversal or recovery. While there may be a genetic based therapy in our future, there is an immediate need to be gaining a better understanding about this condition to aid in treating all Rett patients at various age and stages of health. This quote from Steve Kaminsky sums it up perfectly:

“IF WE WAITED FOR A CURE FOR DIABETES, WE WOULD STILL BE WAITING. WE DON’T HAVE A CURE FOR DIABETES BUT WHAT WE KNOW IS HOW TO TREAT DIABETES WITH INSULIN AND THAT’S WHAT WE NEED TO DO – SOMETHING VERY SIMILAR FOR OUR GIRLS. THOSE TECHNOLOGIES ARE OUT THERE.”

The Natural History Study is part of this journey. Please watch this video to learn more.

[…] Elizabeth does a great job of explaining the differences between these three sciences in this post on her […]

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