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Current Research Studies

A randomized, double-blind, placebo-controlled study evaluating Acetazolamide efficacy in ataxia in PMM2-CDG

PMM2 Acetazolamide Trial

Clinicaltrials.gov ID: NCT04679389

What is the goal of the study?

Multicenter, randomized, double-blind, placebo-controlled trial to determine the efficacy of acetazolamide in improving ataxia in patients with PMM2-CDG. 6 Subjects at our site will be randomized to placebo/Acetazolamide on a 1:1 ratio for 6 months then crossed over to open label treatment on Acetazolamide.

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team:

PI (Study Doctor): Christina Lam
Study Team Member: Seishu Horikoshi, Seishu.Horikoshi@seattlechildrens.org

Seattle Children’s complies with applicable federal and other civil rights laws and does not discriminate, exclude people or treat them differently based on race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry), age, disability, or any other status protected by applicable federal, state or local law. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.