NKH Patient Registry

It has been an incredible couple of months in our community, full of milestone announcements, all for the benefit of our children. So many talented mothers and fathers who work tirelessly around the globe for one reason: our children.

We are at a critical point in multiple research efforts at different locations. It’s time to come
together, to use our voices and our skills to make an impact larger and quicker than we can alone.

Recently NKH Crusaders held a conference in Boston and Joseph’s Goal held a virtual
conference in the UK with Nick Greene. After these conferences, Nick Greene, Joseph’s Goal, and other US Organizations held a meeting to align ways to better support the Global work being done on NKH.

Funding at this time for Nick’s work is being provided by Joseph’s Goal, grants and by other donators, but it was shared with us by Nick that his needs are beyond just funding. He has requested access to the Patient Registry and information already gathered by the US Organizations. We may be adding some additional questions for Nick to the existing patient registry questionnaire and will update more on that in the coming weeks.

So in that spirit, we are announcing today that the NKH Crusaders, along with their partners in the United States including
Brodyn’s Friends Foundation, The Nora Jane Foundation, The Lucas John Foundation, and The John Thomas Foundation, will begin a more collaborative working relationship with Joseph’s Goal in the UK. We’ve made this decision to help create an environment of transparency and trust.

It’s important to recognize, that we have always worked together and supported each other, and we are formalizing that now so that there is no confusion. We are all working together towards a common mission of curing NKH and finding better treatment options as soon as possible for our
children.

Our individual organizations will still be supporting the researchers that each organization chooses to support. However, we will be working together to make sure that the needs of our community around the globe, regarding any future clinical trials are met.

Our first two projects together in 2024 will be based on the feedback we received from the FDA and suggestions from Nick Greene. The FDA asked very specific questions regarding the barriers that we see as a community - getting to the clinical trials, financial and travel barriers etc. Please be looking for more information on that soon.

We also plan to collaborate with the researchers and each other to continue to build on an already robust patient registry. We are asking families who have not completed the registry to do so and we will be working with Joseph’s Goal and other US organizations to reach families that exist but have not yet been identified due to social differences. The information in this registry is
needed not only by US researchers but also Nick Greene.

We are excited about what the remainder of 2024 will bring for all of us.

During our recent meeting, Nick's budget needs and funding were discussed. To keep in the spirit of transparency, Joseph's Goal is to share how they have been financially supporting Nick’s work.

Below is a statement from Joseph’s Goal:

Dr Nick Greene and his research team at UCL are making huge strides in trying to solve the puzzle of NKH.

The majority of Nick’s research grants are specifically tied to fixed targets, but funding from Joseph’s Goal has no such restrictions - and therefore allows Nick to explore other areas of NKH. This has accelerated the rate at which Nick has progressed his research by years.

Joseph’s Goal has been funding Nick for eight years. We have already committed £955,000 ($1,212,000) to UCL.

Before funding Nick Greene and his research, Joseph’s Goal also committed £205,598 ($312,753) to Dr. Johan van Hove and his own NKH research studies.

Our funding, combined with all of the work that the US organizations have done can aid Nick Greene in moving research forward stronger and faster.

It is abundantly clear that we need each other. The researchers need us. Let’s truly come together and make the dream of a cure a reality.

Alone, We are Rare, Together we are Strong.

NKH Survey for USA Families only at this time due to funding a site locations. We are exploring ways if the grant is approved to open internationally.

IN-TIME Consortium Survey:

We are excited to share that the NKH Community has been asked to participate in the IN-Time Consortium; (Infantile Treatable Inherited Metabolic Epilepsy.) This proposed grant will impact the 4 disorders below. We are thrilled that Dr. Curtis Coughlin, who has worked with Dr. Van Hove for over a decade, felt that NKH fit the profile needed for this potential grant. The grant would provide funding for 5 years of 1 million dollars to build a natural history study, research newborn screening options, and help us to be ready for Clinical Trials. Results of the grant will be announced in the 2nd quarter of 2025. To prepare, we are collecting the data on this survey to gather information from families on their willingness and ability to participate in this 3 to 5 year trial. We expect 25 participants to be selected from each rare disease. This grant is due on August 1, 2024 so we ask you to fill out this survey by Thursday July 26, 2024.

The Rare Disease Clinical Research Network (RDCRN) is a National Institutes of Health (NIH)-funded research network dedicated to achieving faster diagnoses and better treatment options for individuals living with rare diseases. Several experts in the field are collaborating on a grant proposal to submit to the RDCRN entitled, IN-TIME (Infantile Treatable Inherited Metabolic Epilepsies) Consortium to advance our understanding of inherited metabolic epilepsies, develop diagnostic approaches, evaluate treatment methods, and share information. (https://www.rarediseasesnetwork.org/)

This grant will combine the following 4 rare disorders:
1. B6 responsive seizures
PLPBP
PNPO
PDE-ALDH7A1
2. Cerebral Creatine Deficiency Syndromes (CCDS)
AGAT
CTD
GAMT
3. NonKetotic Hyperglycinemia (NKH)
4. Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)

This survey aims to gather data on the interest within our specific communities and identify any barriers that may prevent your participation. Completion of this survey does not guarantee enrollment into the study.

If you have more than one child impacted by the disease, please fill out the survey for each child.

Please use this link to access the survey: https://forms.gle/46tTp4wQLYxoK7VT6

This grant is being overseen by the following Scientific Leads: Dr. Curtis Coughlin, Dr. Phillip Pearl, Dr. Nicola Longo, Dr. Marzia Pasquali, Dr. Johan Van Hove, Dr. Sarah Elsea, Dr. Melissa Haendel.

Please reach out to Kristin Archibald, Heidi Leslie or Amanda Almany with any questions.

IN-TIME Consortium The Rare Disease Clinical Research Network (RDCRN) is a National Institutes of Health (NIH)-funded research network dedicated to achieving faster diagnoses and better treatment options for individuals living with rare diseases. Several experts in the field are collaborating on a grant proposal to su...

Join us Wednesday night to learn how we can work together to make an immediate impact! Drop your email in the comments to receive the zoom invite

The NKH community just wrapped a powerful Patient Listening Session where 8 brave families came together to share their unique experiences of diagnosis and living with NKH.

We are proud to announce another milestone in this already spectacular week. Our fundraising efforts have helped fuel the research being done at the University of Notre Dame's Boler-Parseghian Center for Rare and Neglected Diseases, resulting in a new patent for gene therapy for NKH being filed. The current results suggest broad applicability for gene therapy treatment of NKH caused by defects in GLDC. This is the first step and now must be approved . Before we can even get to 1st steps of clinical trials .

. This is the time to share your Thoughts with the FDA on the symptons that Inpact your child and willingness to consider clinical trials down the road. If you have not done the survey it takes less than 5 minute and are willing please put your name below and i will send it via messenger or your email below and I will email.
We NEED your voices , we WANT your voices to be heard , each Parent can fill it out with a different email address for each parent please .

Please take 5 minutes to complete this survey. This information will be critical to us as we present in front of the FDA soon
Five minutes to help us, help the FDA know what is important to our community
Alone we are Rare, Together we are Strong!

FDA Patient Listening Session We will be meeting with the FDA in regards to NKH and would love to be able to share some facts with them.

Great news!!
We are happy to announce that the new CoRDS online portal is live! The new online portal provides a rich and user-friendly experience for online participants. Participants will now be able to easily update their questionnaires on a tablet or mobile device.
If you have not done, so, yet, please register for the NKH Patient Registry. It’s easier than ever now with the online option. Thank you and Please ask any questions you have

Hi families we as you know have a amazing opportunity to meet with the FDA and share Information about NKH, our children’s symptoms , and thoughts on clinical trials as we look ahead to we hope Gene therapy and other Potential treatments. We need your help. We have a 3 questions survey which we will be sharing with the FDA . We need families to fill this out and help them understand what you as families are looking for. Please fill this out , share with NKH families !!

https://forms.gle/rDZv6LsUSvGo5Lhq8

Deadline to complete is 10/30/23 if you are not aware of our meeting listed below is the information .

FDA Patient Listening Session We will be meeting with the FDA in regards to NKH and would love to be able to share some facts with them.

🐝💙💛💙

If you have started your questionaite for the registry but have not yet finished it please make a point to do that. We need that Information . Reach out if you have questions .

NKH Patient Registry This is where we need your help. We ALL want the cure and we need you to share this link to all your friends and family , email them the link . It takes money to keep the research moving and Notre Dame is going to GIVE us a part of the 250,000 up for grabs . 2 years ago we had 1100 votes and came in first place and secured over 90,000 for NKH research. It only take 5.00 that is all!! 5.00 and 10 minutes of your time to ask friends and family to donate 5.00. We need you all to share and donate to the link below!

https://notredameday.nd.edu/p2p/300623/kristin-archibald-210c4ffb-f735-4501-94a2-588d4e04df21?fs=e&s=cl&fbclid=IwAR3-kTZZ_DUodM_n09898UngXgNIexCED83SEmKCk6m3C9hQ6ysQZ8lIjxU&fs=e&s=cl

NKH Crusaders NKH Research Fund's Fundraiser Profile | Notre Dame Day 2023 Help NKH Crusaders NKH Research Fund's fundraiser efforts for Notre Dame Day 2023

If you have completed the patient registry questionairre and are willing to have certain labs drawn the next time your child has lab drawn to share as part of NKH a research please leave me a message below. You must have completed the NKH questionnaire not just registered .

We have 142 patients enrolled in the registry and only 44 have completed the entire questionaire. How can I help you complete this ? If you would like a 1 on 1 call with me or Heidi to answer any questions please say yes below and we will set up a call to help.

We need to get this registry to a minimum of 50 completed . We will be doing another drawing on Mat 2nd for 1 100.00 Amazon card for all those who have completed the registry will be entered to win. Completed does not mean you answered every questions we know some you need to collect data from the doctors for. We need demographics , age of diagnosis , glycine levels , DNA mutations , current medical diagnosis ASAP.

Help us help all our children by getting this information together !

Hi Everyone
We are reaching out to see how everyone is doing with the patient registry . We are asking those who have signed up and started to try to complete the NKH a registry questionnaire . setting up a zoom meeting to answer questions you may have . If you are interested in attending please leave email below .

Thank you
Kristin

Good Morning I am getting lots of messages from people who were the winners of the 50.00 gift cards from Cords for registering for the patient registry . We are so grateful you registered . Please feel free to share if you are a winner , I have permission from Megan Boucher and Dennis Kepper to share their names so far .
If you registered the next steps is to complete the whole questionnaire . This Information is valuable and needed . If you need help let us know .

For those of you mailing your registration and have questions, I hope this helps!! I received this from CoRDS this morning. ❤️🐝

I am sorry to hear for about the mishap with the families. If they mail a questionnaire in, a letter would get sent back to them in the mail that their questionnaire was received. If they email it, an email will get sent back to them. If they would like to confirm if we have received their questionnaires, they can email CoRDS directly at [email protected].

Good morning and Happy New Year!!!

We would like to take a moment and thank those of you that have completed the all important NKH patient registry! This is such an important next step to our collective mission of finding a cure and better treatment options for our children.

As of this morning, 121 families have taken the first step and have received an email from CoRDS with the questionnaire!! Only 25 families have actually completed the registration.
We thank those 25 families from the bottom of our hearts, and we want to help the rest of you in anyway we can to complete that registration.

We understand how busy all of our lives are and carving out 90 minutes is sometimes tough to do but that’s kind of the definition of a special-needs parent! ❤️

If you have questions, concerns, please reach out! In the next few days, we will be posting about scheduling some additional one on one meetings, group, zoom meetings, and as always, you can message us, and we will get to you as quickly as we can. 

Thank you, thank you, thank you!

Alone, we are rare, together we are strong !! ❤️🐝

Questions about completing your Registration? please ask!! We can help ❤️🐝

Final 2 days to get the patient registry completed to be entered to win one of 10 Amazon 50.00 gift cards donated by the Nora Jane Almany Foundation.
I finished mine last night and while I will need to go back and add details I did not known and upload imaging, I completed 70%. Remember that enrollment was the first step. You will have gotten a email with 3 things attached.
1. Consent form for you to print and keep
2. PDF fillable CoRDS specific questionnaire
3. NKH disease specific registry questionnaire.

Fill out 2 and 3 and email them back. Message us if you need help or have question or call CoRDS directly

Well I finally got my registry completed. Definitely helped to have old documents on hand. Bittersweet walking through our early NKH days from 11 years ago. We have come so far!!! Please get your registry completed and make sure every NKH family you know is aware of it. It is so important to help us push the research!!

Good morning everyone it has been brought to our attention that some are not finding the 2nd part of the questionnaire . When you enroll within 24 hours you should be getting a email from CoRDS . There will be 3 attachments. The consent , CoRDS standard questionairre that they use for all rare disease and then the NKH disease specific questionairre . Please make sure you fill out all 3.

To those of you who have taken the time to enroll with CoRDS to get the NKH Patient Registry survey we Thank you , please fill in as much info as you can and send it back to CoRDS. There is strength in numbers when it comes to research ! Enter as much as you can , you can make edits later and upload reports . We are here for any and all questions . If you need help you can ask us or even call CoRDS directly .

Thank you to all who attended this morning. If you have any additional questions regarding today’s information, or any feedback for us, or other families interested in the patient registry, please let us know

Excited to see everyone who has registered for our Patient Registry Informational Zoom at Noon today! ❤️🐝