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Participating in NKH Research

Dr Van Hove and Children’s Hospital, Colorado

Dr Van Hove has been working in the field of Nonketotic Hyperglycinemia (NKH) since 1991, and it has been his primary research subject since 1998.

There are currently severals ways NKH patients can participate:

Current Care Practices Study

Dr Van Hove and his team are currently developing a clinical study of children with NKH. This study is aimed at optimizing the current therapy to the best of our knowledge of today, and at measuring the most relevant clinical parameters. This will help inform best-in-class care standards, and provide insight into potential therapies.

In Person workup

NKH patients can support their work by visiting the team in the clinic at Children’s Hospital Colorado for a work up and donating a sample . Please contact either Linda at or Danielle at for scheduling.

Sample Donation

Should a child with NKH die, their families can donate their brain to the Brain and Tissue Bank at the University of Maryland, to help inform NKH progression.

More information available here.

Consent Forms/Questionnaires

Prof Nick Greene and UCL, UK

Prof Nick and the team at UCL have been working in the field of Nonketotic Hyperglycinemia (NKH) since 2012.

The team at UCL are currently collecting Induced pluripotent stem cells (iPS cells) generated using skin cells from NKH patients, to use within their cell models. These models are used to verify the results of potential treatments and to better understand the nature of NKH.

If your child has had a skin biopsy and you would like to donate the sample to UCL for use in their cell models, please have the lab holding the sample (or the consultant who requested the biopsy) contact Prof Nick Greene at UCL (n.greene[at] to arrange donation.

More information available here.

The Boler-Parseghian Center for Rare and Neglected Diseases

Since August 2015, the CRND with the University of Notre Dame has been working to understand the extreme variability of onset age and symptom presentation in NKH children.

They are currently conducting two separate, but related, studies.

The Rare Health Exchange Program

Through a Notre Dame Student education program, NKH medical records are collected and used to develop a natural history of NKH – essentially how NKH unfolds and progresses. This data will hopefully provide an NKH roadmap for the different mutations, so we can understand what future expectations and symptoms a child with NKH might have. It also provides researchers a way to identify whether treatments are working as expected.

The Molecular Study

Through skin biopsies and blood tests researchers are able to evaluate the molecular and cellular factors that contribute to NKH. This in turn will be used to develop targeted therapies and treatments for NKH.


To participate please contact Barbara Calhoun, the outreach co-ordinator for both studies.

  • +1-574-631-883
Consent Forms