Current Research Studies

CDG – Clinical and Basic Investigations into Phosphomannomutase Deficiency (PMM2-CDG1a)

Condition or Therapy:

Phosphomannomutase deficiency (CDG)


Genetics; Developmental Medicine

What is the goal of this study?

This study is designed to collect clinical and biological information in patients with phosphomannomutase deficiency (PMM2-CDG). The team wishes to:

  1. Help define the frequency and variability of developmental, neurologic, ophthalmologic, immunologic, hematologic, dermatologic, cardiac, pulmonary, gastrointestinal, renal, endocrine, and musculoskeletal manifestations in patients with PMM2-CDG
  2. Determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a phase 2/3 clinical trial with a new chemical entity (NCE)

Who can join the study?

Patients interested in joining this study must have a diagnosis of PMM2-CDG based on enzymatic and/or molecular testing to participate. 

What will happen if my child takes part in this study?

Patients with PMM2-CDG will be asked to give the study team permission to access their medical records in order to compile relevant clinical data to add to the study's database. Study participants will be given a study subject code to be used in lieu of their names in the database. 

Who can I contact for more information?

Please contact the study team at 206-884-1264 or by email.

Study Location(s):

Seattle Children's Hospital campus

Principal Investigator:

Dr. Christina Lam 

Study posted: June 27, 2019