Children diagnosed with PIGA and other CDGs often have many complex medical issues. That’s why it’s important to learn as much as you can about your child’s condition and to seek out medical professionals who understand how having a CDG might impact your child’s health and life. Below is a list of clinics available across the United States, as well as information about an ongoing CDG Natural History Study taking place at the NIH. At the bottom of the page is a link with key CDG contacts for many countries around the world.
The National Institutes of Health (NIH) in Bethesda, Maryland has an ongoing CDG Natural History Study to help them learn more about CDGs… it typically involves a week-long stay there. Their CDG protocol is described here: https://clinicalstudies.info.nih.gov/…/…/A_2014-HG-0071.html. To participate or with questions, please contact Lynne Wolfe (lynne.wolfe@nih.gov).
In 2020, Frontiers in Congenital Disorders of Glycosylation (FCDGC) started enrolling patients in a “Clinical and Basic Investigations into CDGs” study. PIGA-CDG patients are encouraged to enroll. Information on the FCDGC natural history study can be found here: https://www.rarediseasesnetwork.org/fcdgc/studies/nct04199000, with a list of clinical sites available here: https://www.rarediseasesnetwork.org/fcdgc/sites.
The following three sites are included in the FCDGC study, but you can also reach out to them separately:
Seattle Children’s Hospital’s Dr. Christina Lam holds a quarterly CDG clinic. The goal of the clinic is to provide recommendations and guidance regarding the management, testing and monitoring for their diagnosis, and to offer an opportunity to ask questions. For more information regarding the clinic and how to make referrals, contact at CDGClinic@seattlechildrens.org or call (206) 987-3012.
Dr. Andrew Edmondson at the Children’s Hospital of Philadelphia (CHOP) just started a CDG clinic within their Metabolic Disease Program (https://www.chop.edu/centers-programs/congenital-disorders-glycosylation-cdg-clinic). Appointments for the CDG clinic can be scheduled by calling (215) 590-3376.
Dr. Eva Morava has quarterly CDG Clinics at Tulane University and is establishing one at the Mayo Clinic (Rochester, Minnesota) with Dr. Marc Patterson, a neurologist who specialized in (among other things) CDGs. Dr. Morava can be reached at Kozicz.eva@mayo.edu.
Finally, CDG Care has a list of key contacts (organizations and individuals) for many countries. That list can be found here: http://cdgcare.com/community/.