Rare Disease Report

The 1st International SYNGAP conference: a Parent's Perspective

DECEMBER 15, 2016
Sarah Morris
As a parent lucky enough to be able to attend the 1st International SYNGAP conference, I wanted to relay some of what I learnt and experienced there for those who were not able to attend.
Firstly, I would like to say that I am so grateful and impressed by all the work already done by the foundation. Monica and the team have been working ceaselessly and already got us further along the road in a few years than a lot of rare disease groups get in several decades!

Scientists and Advocates Meet

It was evident from the presentations just how much work is involved in getting treatments ready for our children to use. We all want the answers, and I share your frustration that we do not have them yet!

There are many steps involved with the process of having new treatments for our children, including the gathering of data about our children, deciding upon a target treatment, testing of potential target treatment firstly in mice, and then doing stages of clinical trials, followed by the challenges of getting any successful treatments approved by the FDA.

I would like to reassure you that the scientists and the foundation really are "working on it"! As they learn more and more about how mutations involving synapse proteins affect development and cause combinations of intellectual disability, epilepsy and autism, it is becoming increasingly clear how these mutations (other conditions, rare diseases and gene mutations) overlap to cause similar problems in the mechanisms of the synapse proteins. Therefore, the treatments that are being looked at for these other rare diseases (for example, Rett Syndrome, Fragile x, Shank 3...)  could also be relevant to the treatment of Syngap.

And Big Pharma

Another thing which is also becoming quite clear, is that Syngap is of great interest to the pharmaceutical industry, even though it is a rare disease (which usually get looked over due to there being little profit in a small population) precisely because it seems to be implicated in so many other conditions involving autism, epilepsy, and intellectual disability. This is all great news for Syngap!
The majority of the presentation content was the process and results of various experiments which the scientists have been working on. This data is unpublished, and cannot shared online at all. And on the face of it, seems largely irrelevant to Syngap!  The goal of the conference was the sharing and discussion of these experiments between the scientists to help them to understand these common protein mechanisms, because many minds together is better than one team in one lab!

We can share with you however, the potential effective use of an anti-epileptic drug called Fycompa/Parampanel, which has been shown to block glutamate and regulate ampa receptors.  As with all anti-epileptics, this drug comes along with potential side-affects.
Statins also continue to be studied and experiments with mice for the use in quite a few genetic conditions continues.
A potential cognitive enhancing drug which is primarily used for HIV sufferers could also be repurposed for potential use in our children. It has been shown to be effective treating the cognitive decline associated HIV, with brain injury in stroke and Alzheimer’s. It has yet to be tested on children so may be a way off yet, but it is a drug that has already been approved and being prescribed to adults.
Both existing drugs approved for use and newly designed medications are being considered, and combinations of medications too, they are all being studied thoroughly for us...it is all going on!  I really got the sense that the collaboration of these very clever minds coming together for a common cause - to find treatments that work with few side effects, will speed things up for our foundation's research. I got the impression these people truly are passionate and driven and determined about their chosen specialty and life's work, and the coming together with families raised them to another level of wanting to push forwards! We were able to share with them how Syngap affects our children and our families. They were able to meet and observe some of our beautiful children! There was not a dry eye in the room during the evening banquet. We made the scientists cry and empathize and that I think that was a good result! Many of them said we had reminded them why they do what they do, and they felt good to be involved in that much needed work.

Need to Participate

On a very serious note, all attendees I think left with a renewed determination to take part in any study going. Because THAT IS THE SINGLE MOST IMPORTANT THING WE ALL CAN DO!!! Because without the information/data we need about our children, we simply CANNOT move forwards in any way. Every single one of us can help with this.
 I passionately feel we owe it to ourselves having come this far to do these forms! And of course for our children, so we can all push forwards in the right direction. So please if you haven’t already, check out the research which you can take part in. Translation problems can be overcome one way or another if it is a hurdle for you.
Which brings me to what I think is one of the most exciting news we received at the conference...

DDD Study

I have often mentioned the DDD study, which has been diagnosing a lot of us in the UK. We had 20 Syngap diagnosis previously known and we were told that there are now a further 25 new Syngap diagnosis in the UK. This is huge for the whole of the international Syngap community, because being a small area with a condensed cohort of patients; we are well placed for doing a really good study.
The details are yet to be finalized, but it will be happening very soon, and will be done in such a way to maximize reliable data and hopefully results from testing our children, and in a way that is sensitive and non-invasive. This is truly unique and exciting opportunity to push things forward and really positive news! We will have more of the crucial data we need!

Takeaway Message

The work goes on and on, but I hope you now have a better idea where we are at. It is frustrating that nobody has a crystal ball and can say how long it will take to find treatments, but I came away from the conference thinking that if anyone can do it, the Syngap Foundation can!

For more information about this rare disease, visit www.bridgesyngap.org

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