Objective 1 (Primary): To determine the efficacy of acetazolamide in improving ataxia in
patients with PMM2-CDG.
Objective 2 (Secondary): To evaluate for any adverse events related to longer term
acetazolamide administration.
Objective 3 (Secondary): To examine the effect of acetazolamide on PMM2 biomarkers including
carbohydrate deficient transferrin results, electrolytes (Na, K, Cl, CO2), VBG (pH, pCO2,
PO2, CO2, Base excess), liver function tests (AST, ALT, GGT, indirect and direct bilirubin,
total protein, albumin, alkaline phosphatase), kidney function tests (BUN, Creatinine,
Urinalysis, urine calcium/creatinine ratio, urine protein/creatinine ratio), growth (height,
weight, head circumference), vital signs (blood pressure, respiratory rate, heart rate),
PROMIS scores, dysarthria using the PATA score, and NPCRS score.
Objective 4 (Secondary): To explore characteristics of individuals with PMM2-CDG who do not
respond to acetazolamide.
Phase:
Phase 2/Phase 3
Details
Lead Sponsor:
Mayo Clinic
Collaborators:
Children's Hospital of Philadelphia Seattle Children's Hospital