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This study collects clinical and biological information from patients with phosphomannomutase deficiency (PMM2-CDG), also known as CDG-1a. Researchers will use the collected data to help understand which clinical and biological tests are best to use when designing an upcoming clinical trial to test an experimental drug under development by the study sponsor.
Subject to certain exclusion criteria, the study is accepting patients of both genders of all ages, who have a diagnosis of PMM2-CDG.
Males and Females: All ages
Researchers will collect medical record information about participants, and participants will return every 6 months for various tests and assessments, including a physical examination, electrocardiogram and blood work.
Visits: Up to 7
Duration: Up to 3 years
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Sandra Braden, RN
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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