Researchers track rare disease PMM2-CDG to unlock clues for future treatments
NCT ID NCT03173300
First seen Jun 27, 2026 · Last updated Jul 09, 2026 · Updated 2 times
Summary
This study is gathering medical information from 120 people with PMM2-CDG, a rare genetic disorder. Researchers will track growth, organ function, and development over time. The goal is to better understand the disease and help design future treatments. No new drugs are being tested.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for PHOSPHOMANNOMUTASE 2 DEFICIENCY are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Centro Hospitalar do Porto
Porto, Portugal
-
Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104, United States
-
General University Hospital in Prague
Prague, Czechia
-
Hospital Sant Joan de Déu
Barcelona, Spain
-
Mayo Clinic College of Medicine
Rochester, Minnesota, 55905, United States
-
Mother and Child Institute (Instytut Matki i Dziecka)
Warsaw, Poland
-
Necker Enfants-Malades Hospital
Paris, France
-
Radboud University Nejmegen Medical Center
Nijmegen, Netherlands
-
Seattle Children's Hospital
Seattle, Washington, 98105, United States
-
University Hospital Leuven
Leuven, Belgium, Belgium
-
University Hospital of Catania
Catania, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.