NKH Patient Registry

Great News!! We are excited to share that we have been approached by a NEW Metabolic Geneticist researching NKH! He is focusing on our older population, 18 years old and older. He is publishing a manuscript this Spring focusing on adult outcomes and prognosis. He has been vetted and has been given access to the de-identified registry!
This is another incredible milestone for all of us as this will be the First published work based on our own registry!

If your child is 18 years old or older, please take some time to go back into your registry and update anything new.

If your child is 18 years old or older, and you have not completed the patient registry, please do so as this is where this new researcher will be obtaining a lot of his data.

If you have a child of any age and have not completed the patient registry, please do so. It is critical to better treatment options and an eventual cure.

We are here to help you. If you would like a specific meeting to help you better understand the registry, why it’s important , or how to complete it, please leave your information in the comment section and we will reach out to you.

Thank you!

REGISTRY | NKH Crusaders Join the NKH Patient Registry to provide essential data that drives research, therapies, and treatment development for Non-Ketotic Hyperglycinemia, empowering researchers and pharmaceutical companies to advance NKH solutions.

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...

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 .

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