Acetazolamide Efficacy in Ataxia in PMM2-CDG
Public ClinicalTrials.gov record NCT04679389. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Randomized, Double-blind, Placebo-controlled Study Evaluating Acetazolamide Efficacy in Ataxia in PMM2-CDG
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT04679389
- Recruitment status
- Terminated
- Study type
- Interventional
- Phase
- Phase 2, Phase 3
- Enrollment
- 25 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 4 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 16, 2021
- Primary completion
- Jan 23, 2024
- Completion
- Jan 23, 2024
- Last update posted
- Mar 19, 2025
2021 – 2024
United States locations
- U.S. sites
- 3
- U.S. states
- 3
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Mayo Clinic | Rochester | Minnesota | 55905 | — |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | — |
| Seattle Children's Hospital | Seattle | Washington | 98105 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04679389, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Mar 19, 2025 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04679389 live on ClinicalTrials.gov.