We are currently recruiting PMM2-CDG patients of all ages for an observational clinical study (GLY-000). This is the first time PMM2-CDG patients will be studied in a multi-center, multi-national group. To be clear: none of the patients in this study will receive an investigational drug. This is only an observational study, but the results are very important because we can begin to understand each patient’s unique disease and its progression. Our study supplements the more in-depth ongoing work at the NIH on CDG patients. Together our combined results can help define criteria for potential treatment studies later on. https://clinicaltrials.gov/. NCT03173300.
Understanding the patient population and finding optimal tests and biomarkers are required before we test any investigational drug. We hope to enroll approximately 48 patients for a minimum of 6 months; they would be first in line for the later clinical trial with a currently developed potential investigational drug. Some patients may continue in the observational study for up to 3 years and all patients must return every 6 months for follow-up clinical evaluation. The GLY-000 observational study is planned for the third quarter of 2017. If you are interested, please feel free to contact one of the involved physicians.
Participating Physicians/Centers:
Eva Morava-Kozicz, MD, PhD – Lead Investigator
Tulane University – New Orleans, LA – USA
University Hospital Leuven – BELGIUM
USA
Gerard Vockley, MD, PhD
Children’s Hospital of Pittsburgh {PA)
Christina Lam, MD
Seattle Children’s Hospital (WA)
Chung Lee, MD
Stanford University (CA)
Can Ficicioglu, MD, PhD
Children’s Hospital of Philadelphia (PA)
Marc Patterson, MD, PhD
Mayo Clinic of Medicine, Rochester (MN)
EUROPE
Peter Witters MD PhD
University Hospital Leuven – BE
Pascale de Lonlay, MD
Necker Enfants-Malades Hospital – FR
Dulce Quelhas, MD
Jacinto Magalḥes Medical Genetics Center РPT
Jolanta Sykut-Cegielska, MD, PhD
Mother and Child Institute – PL
Tomáš Honzik, MD, PhD
General University Hospital in Prague – CZ
Stephanie Grunewald, MD
Great Ormond Street Hospital, UK
