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Acetazolamide Efficacy in Ataxia in PMM2-CDG

NCT04679389 · Status: TERMINATED · Phase: PHASE2/PHASE3 · Type: INTERVENTIONAL · Enrollment: 25

Last updated 2025-03-20

Study results available
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Summary

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.

Conditions

  • Pmm2-CDG
  • CDG1A

Interventions

DRUG

Placebo

administered orally or enterally

DRUG

Acetazolamide

administered orally or enterally

Sponsors & Collaborators

Principal Investigators

  • Eva Morava-Kozicz, MD, PhD · Mayo Clinic

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-17
Primary Completion
2024-01-24
Completion
2024-01-24
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Drugs
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04679389 on ClinicalTrials.gov