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 Jacque.newkirk@childrenscolorado.org or Iaisha.Antoine@childrenscolorado.org 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]ucl.ac.uk) to arrange donation.

More information available here.