Phosphomannomutase Deficiency Natural History Study

Clinical and Basic Investigations into Phosphomannomutase Deficiency

Protocol Description

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.

Eligibility Criteria

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

Status: Open to Enrollment

Source(s) of Support

Glycomine, Inc.

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Sandra Braden, RN