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Carbonic Anhydrase Inhibitor
Acetazolamide for Ataxia in Congenital Disorders of Glycosylation
Phase 2 & 3
Waitlist Available
Led By Irene Chang, MD
Research Sponsored by Mayo Clinic
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up through study completion, an average of three years
Awards & highlights
Study Summary
This trial is testing whether acetazolamide can help improve ataxia in patients with PMM2-CDG. Secondary objectives are to evaluate for any adverse events related to longer term acetazolamide administration, examine the effect of acetazolamide on PMM2 biomarkers, and explore characteristics of individuals with PMM2-CDG who do not respond to acetazolamide.
Who is the study for?
This trial is for individuals aged 4 years or older with PMM2-CDG, a genetic disorder causing ataxia. Participants must have some ataxia symptoms and confirmed PMM2-CDG through molecular or enzyme tests. It's not open to those with recent severe liver issues, taking certain medications like Mecamylamine, or who've used experimental drugs within the last month.Check my eligibility
What is being tested?
The study aims to see if Acetazolamide can improve ataxia in patients with PMM2-CDG compared to a placebo. It will also monitor any side effects from long-term use of the drug and its impact on various health markers such as liver and kidney function, growth, vital signs, speech clarity, and overall neurological condition.See study design
What are the potential side effects?
Potential side effects of Acetazolamide may include tingling sensations in fingers/toes, hearing disturbances, altered taste sensation, fatigue, nausea/vomiting/diarrhea (digestive issues), drowsiness or confusion.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ through study completion, an average of three years
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~through study completion, an average of three years
Treatment Details
Study Objectives
Outcome measures can provide a clearer picture of what you can expect from a treatment.Primary outcome measures
Efficacy of Acetazolamide on ataxia measured via Miniature International Cooperative Ataxia Rating Scale (mini-ICARS)
Secondary outcome measures
Examine effect of Acetazolamide on PMM2 biomarker carbohydrate deficient transferrin
Examine effect of Acetazolamide on Patient Reported Outcomes Measuremen Information System (PROMIS) Score
Examine effect of Acetazolamide on disease progression as measured by the Nijmegen Pediatric CDG Rating Scale (NPCRS)
+4 moreSide effects data
From 2022 Phase 4 trial • 11 Patients • NCT033770499%
External Ventricular Drainage infection
9%
Hydrocephalus
9%
Pulmonary edema
9%
Cardiomyopathy
100%
80%
60%
40%
20%
0%
Study treatment Arm
Acetazolamide Challenge
Trial Design
2Treatment groups
Experimental Treatment
Placebo Group
Group I: AcetazolamideExperimental Treatment1 Intervention
Acetazolamide administered via capsule or liquid suspension. Capsule would be 250 mg oral capsules encapsulated by gelatin capsule and filled with lactose to match placebo. Liquid suspension would be 25 mg/mL oral suspension but adding 125 mg Acetazolamide tablets to suspending agent Ora-blend
Group II: PlaceboPlacebo Group1 Intervention
Placebo administered via capsule or liquid suspension. Capsule would be a gelatin capsule filled with lactose powder to match Acetazolamide. Liquid suspension would be Ora-blend.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Acetazolamide
2011
Completed Phase 4
~2910
Find a Location
Who is running the clinical trial?
Mayo ClinicLead Sponsor
3,216 Previous Clinical Trials
3,767,463 Total Patients Enrolled
Seattle Children's HospitalOTHER
304 Previous Clinical Trials
5,217,275 Total Patients Enrolled
Children's Hospital of PhiladelphiaOTHER
708 Previous Clinical Trials
8,582,995 Total Patients Enrolled
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- You have ataxia, which is shown by having a score greater than 0 on the mini International Cooperative Ataxia Rating Scale at the start of the study.Confirmed diagnosis of PMM2-CDG through specific testing.Your liver function test results have shown high levels of AST or ALT in the past year.You are currently taking certain medications like Mecamylamine, Sodium Phosphates, Salicylates, Mefloquine, Methenamine, or other Carbonic Anhydrase Inhibitors.Your blood test shows that your kidneys are not working well.You are allergic to acetazolamide.You are allergic to any of the ingredients in the placebo.You must be at least 4 years old.
Research Study Groups:
This trial has the following groups:- Group 1: Acetazolamide
- Group 2: Placebo
Awards:
This trial has 0 awards, including:Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
Frequently Asked Questions
These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
What medical conditions does Acetazolamide typically help alleviate?
"Acetazolamide can be used to manage symptoms caused by thyroid cancer, opioid use, and edema."
Answered by AI
Are there other examples in which Acetazolamide has been used in medical research?
"Acetazolamide's first clinical trial took place in 1997 at Vanderbilt University's Autonomic Dysfunction Center. In the two decades since, there have been a total of 18392 completed trials. 30 of these studies are still ongoing, with a significant portion based in Rochester, Minnesota."
Answered by AI
How Many people will be enrolled in this clinical trial?
"This specific clinical trial is not recruiting patients right now, however it was last updated on May 16th, 2022. There are presently 6 other studies enrolling participants with cdg1a and 30 trials for Acetazolamide that are actively recruiting."
Answered by AI
Are there any unfilled participant positions within this research project?
"Data from clinicaltrials.gov shows that this study is not currently recruiting patients. The trial was originally posted on March 17th, 2021, and was updated on May 16th, 2022. There are currently 36 other trials that are recruiting patients."
Answered by AI
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