Researchers track rare disease to unlock clues for future therapies
NCT ID NCT03173300
First seen Nov 18, 2025 · Last updated Apr 23, 2026 · Updated 21 times
Summary
This study is for people with PMM2-CDG, a rare genetic disorder. Researchers will collect medical information and test results from 120 participants over time. The goal is to learn more about how the disease progresses, which can help design better treatments in the future. No experimental drugs are given—this is an observational study only.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
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
Conditions
Explore the condition pages connected to this study.