NIH NGLY1 Study Experience

Bertrand with NIH study coordinators, Lynne Wolfe and Christina Lam.

In June 2014, the National Institutes of Health saw the first NGLY1 patient as part of it's CDG Protocol.  This study is a valuable instrument for understanding N-glycanase deficiency, and developing a natural history of the disorder.  The NIH is still enrolling participants.  Interested parties should contact Lynne Wolfe.

The following links provide an overview of the study experience from the patient/family perspective:

NIH Schedule

NIH Day 1

NIH Day 2

NIH Day 3

NIH Day 4

NIH Day 5