Status:
TERMINATED
Acetazolamide Efficacy in Ataxia in PMM2-CDG
Lead Sponsor:
Mayo Clinic
Collaborating Sponsors:
Seattle Children's Hospital
Children's Hospital of Philadelphia
Conditions:
Pmm2-CDG
CDG1A
Eligibility:
All Genders
4+ years
Phase:
PHASE2
PHASE3
Brief 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 ace...
Detailed Description
This study is double-blind, placebo-controlled, 1:1 randomized clinical therapeutic trial of acetazolamide for the treatment of ataxia in patients with PMM2-CDG. Clinical history and screening data wi...
Eligibility Criteria
Inclusion
- Molecularly and/or enzymatically-confirmed PMM2-CDG,
- Age ≥4 years old, and
- Affected with ataxia evidenced by mini International Cooperative Ataxia Rating Scale (Mini-ICARS) score \>0 at baseline.
Exclusion
- Hepatic impairment defined as AST/ALT \>5x ULN in the last 12 months
- Renal impairment defined as serum creatinine: \> 0.5 mg/dL (\<6 years); \> 0.7 mg/dL (7-10 years); \> 1.24 mg/dL (\> 11 years)- Hypersensitivity to acetazolamide
- Hypersensitivity to any of the components of the placebo
- History of treatment with experimental drug within 28 days of Visit 1
- Currently taking Mecamylamine, Sodium Phosphates, Salicylates, Mefloquine, Methenamine and other Carbonic Anhydrase Inhibitors
Key Trial Info
Start Date :
March 17 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
January 24 2024
Estimated Enrollment :
25 Patients enrolled
Trial Details
Trial ID
NCT04679389
Start Date
March 17 2021
End Date
January 24 2024
Last Update
March 20 2025
Active Locations (3)
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1
Mayo Clinic
Rochester, Minnesota, United States, 55905
2
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
3
Seattle Children's Hospital
Seattle, Washington, United States, 98105