Researchers track rare disease PMM2-CDG to unlock clues for future treatments
NCT ID NCT03173300
First seen Jun 27, 2026 · Last updated Jun 27, 2026
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.
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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.
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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.
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Other studies related to the condition(s) this trial covers.
Contacts and locations
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Locations
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Centro Hospitalar do Porto
Porto, Portugal
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Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104, United States
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General University Hospital in Prague
Prague, Czechia
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Hospital Sant Joan de Déu
Barcelona, Spain
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Mayo Clinic College of Medicine
Rochester, Minnesota, 55905, United States
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Mother and Child Institute (Instytut Matki i Dziecka)
Warsaw, Poland
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Necker Enfants-Malades Hospital
Paris, France
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Radboud University Nejmegen Medical Center
Nijmegen, Netherlands
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Seattle Children's Hospital
Seattle, Washington, 98105, United States
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University Hospital Leuven
Leuven, Belgium, Belgium
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University Hospital of Catania
Catania, Italy