A Critical Step for Research

Our foundation, the FOXG1 Research Foundation, made a BIG announcement today. We launched the only global FOXG1 Syndrome Patient registry today. This might not seem like a big deal, but please allow me to explain why it is.

Basically, it's very unlikely to develop treatments for any disorder if you don't have a Patient Registry specifically for that disorder. And it has to be global.

When we started the FOXG1 Research Foundation in late 2017, we knew we were entering a world of many challenges and we vowed to meet each one with the mindset of working smart and fast with the goal of finding a cure.

We spoke with many "Industry" peeps (Biotechs and Pharmaceuticals) about our research strategy - or as we call it - our Path to a Cure - and the first thing they all said was, "start your Patient Registry." The Industry will not even look at a disorder to consider investing in for therapies if there is not a Patient Registry. That simple.

A Patient Registry is a 20 minute questionnaire that parents/caregivers fill out about their child/patient. It covers the specific genetic mutation, the phenotypes (characteristics), the doctors, etc. The information scientists gather from actual caregivers is money! There are just so many things that scientists can not know without hearing it from the actual caregiver or patient themselves, if possible.

Ok, so we have to develop a registry. Sounds easy enough. Well, developing a registry takes a whole lotta time and money. But, we are on the road to a cure and this is the direction.

When we set out to tackle this registry task we interviewed a host of registry software developers. We landed on a company called #Beneufit and worked with the CEO, @JeffBroderick to develop a sophisticated and comprehensive global FOXG1 syndrome Patient Registry.

What's cool, for the caregiver, about filling out the registry, is not only that they are doing an important step towards furthering research, but as they fill it out, they are served real-time information about the total FOXG1 population in comparison to their child. For example, once they fill out if their child can or cannot sit, stand, walk, or talk, a graph appears showing the number of patients who fall under each answer. These graphs change as each caregiver completes the registry.

For me, it's interesting to see, in a graph, how many children in the FOXG1 worldwide population have the same type of "nonsense" mutation that Josie has. It's interesting to me to see how many children have skills that I never thought possible for Josie.

So today we launched the English version of the very-big-deal FOXG1 syndrome Patient Registry. More languages will be rolled out in the next several weeks. We can't emphasize to parents enough how important it is to take the 20 minutes to fill this out. One hurdle we're running into is confusion about other questionnaires that exist that parents may have been told to fill out, and the difference between our FOXG1 Registry and the National History Study. We explained the differences on our website:

Why this is different than the Natural History Study or other questionnaires:

• Those studies are not global. For a rare disease, only a worldwide Patient Registry will be truly helpful.
• Other studies do not give you back the analyzed data from a global patient population. They don’t help you make better decisions.
• Scientists are not able to access information from most other studies. There is little point to collect data if it can’t be used.
• Other registries are NOT for FOXG1 specifically, this is the only registry for FOXG1 syndrome.

We also gave a good bullet point list of Why fill out this Registry?

• You will help scientists better understand FOXG1 syndrome so they can develop treatments and hopefully a cure.
• You will learn about drugs and therapies for symptoms, like seizures, that are most effective for children with a similar mutation to your child.
• You will be able to connect with research studies and scientists.
• You will learn how many children share your child’s similar mutation; what their symptoms are; and what their progress is.
• You will get real answers about the syndrome. You get to know the facts!

So now our big job is to get every caregiver to fill it out so we can go to Industry and say, "yes, we have a strong and comprehensive registry filled out by FOXG1 syndrome caregivers from around the world."

The real hard work for this project came from my co-founder @nashafitter and our wonderful genetics counselor @ellibrimble. I also want to thank our amazing team of FOXG1 parents, scientists, SAB, @Beneufit, and most importantly anyone who has donated to the FOXG1 Research Foundation, for helping us achieve this critical step along the Path to a Cure.