Protocol Collaboration with the NIH

The NGLY1 community is very fortunate to collaborate with the National Institutes of Health (NIH) in Bethesda, Maryland, USA, where several NGLY1 patients are being seen as part of a natural history study protocol gaining valuable insights into the characteristic symptoms and natural progression of the disease and laying the groundwork for future therapeutic approaches.

Name of Protocol: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.  NGLY1 Deficiency is the first known Congenital Disorder of Deglycosylation and is an integral part of this study.

For more information, please contact:

Lynne A. Wolfe, MS, CRNP, BC
Senior Nurse Practitioner
Study Coordinator, Congenital Disorders of Glycosylation
NIH/NHGRI
Email: glycosylation@nih.gov