Ongoing Research

University College London (UCL), UK
Professor Nick Greene and team

The scientists at UCL have been working in the field of Nonketotic Hyperglycinemia (NKH) since 2012 and are currently working on understanding the development of NKH and to develop novel therapies, such as gene therapy for NKH. They are currently using mice and cell models and are exploring a number of experimental areas.

You can find out more about their work here.

The University of Colorado, USA
Dr Johan van Hove and team

The Colorado research team focuses on understanding the biochemistry of NKH, building a clinical study of children with NKH and exploring effective therapies for NKH.

You can read more, here.

Dr Van Hove has been working in the field of NKH for over 30 years, and his initial research papers have formed the foundation of the research practiced today.

The Mikaere Foundation shares recent research updates, at:
mikaerefoundation.org/research-updates

Getting involved with Research

There are a few ways you can support ongoing research into NKH:

• Fundraising: each of the research teams benefit from funding raised by families within the NKH community. This funding is essential for their functioning and continuing research into NKH. Any fundraising you can do will support future prospects for patients with NKH.
  
  
• Natural History studies: you can support by filling in surveys that contribute to research into NKH. These are sometimes available via charities, research teams or NKH organisations.
  
  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 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 to learn more, or download the Current Care Practices Questionnaire (DOCX) to send to Dr. Van Hove’s nurse: Ashley.glenn@childrenscolorado.org.
  
  
• Donation of skin samples: The UCL team 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@ucl.ac.uk) to arrange donation.
  
  
• Embryo donation: if you undergo IVF and an embryo is shown to be affected by NKH, you can donate the embryos to the UCL team. Email: n.greene@ucl.ac.uk
  
  
• Brain and tissue bank: if a child with NKH dies, you can choose to donate their brain and tissue to the University of Maryland. There is more information available on that at medschool.umaryland.edu