Current Research Studies

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

PMM2 Acetazolamide Trial

Phase: II/III
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: Hayden Vreugdenhil, [email protected]