Trial · NCT04679389
Acetazolamide Efficacy in Ataxia in PMM2-CDG
NCT04679389, Phase 2, Phase 3, Terminated, Mayo Clinic; results first posted 2025-03-20
3 sourcestrials-2026-11-12-0.5.0
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ConductScience Library. Acetazolamide Efficacy in Ataxia in PMM2-CDG. Trials, record NCT04679389. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT04679389
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Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- Acetazolamide Efficacy in Ataxia in PMM2-CDG
- NCT number
- NCT04679389
- Status
- Terminated
- Phases
- Phase 2, Phase 3
- Enrollment
- 25 participants, actual
- Lead sponsor
- Mayo Clinic
- Conditions
- Pmm2-CDG, CDG1A
- Interventions
- Placebo, Acetazolamide
- First posted
- 2020-12-22
- Last updated
- 2025-03-20
- Results first posted
- 2025-03-20
Source ClinicalTrials.gov
Registered outcomes8
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Efficacy of Acetazolamide on Ataxia Measured Via Miniature International Cooperative Ataxia Rating Scale (Mini-ICARS) | baseline-6 months | To achieve this goal, we compared the change of Mini-ICARS score from baseline to after six months of treatment between the placebo and active treatment groups. Minimal score is 0, maximum score is 100, higher score indicates greater impairment. Each subscale has an ordinal scale with a 0 indicating normal and the higher score indicating greater impairment or that the patient was unable to complete the task. |
| Secondary | Abnormal Blood pH Value | through study completion, approximately 2 years | Blood pH level was assessed through venous blood gas test. The number of participants who experience a drug related adverse event related to abnormal blood pH value. |
| Secondary | Electrolyte Balance Testing | through study completion, approximately 2 years | Electrolyte balance was assessed through combination testing on concentration of potassium, sodium, chloride, bicarbonate, magnesium, calcium, and phosphate. The number of participants who experience a drug related adverse event related to abnormal electrolyte balance. |
| Secondary | Urine Calcium Excretion Testing | through study completion, approximately 2 years | Urine calcium excretion is measured by mg excreted per day. The number of participants who experience a drug related adverse event related to abnormal excretion of calcium. |
| Secondary | Examine Effect of Acetazolamide on PMM2 Biomarker Carbohydrate Deficient Transferrin | 6 months | Number of patients with abnormal ratio result will be recorded to understand the effect acetazolamide has on this biomarker |
| Secondary | Change in Patient Reported Outcomes Measurement Information System (PROMIS) Score | baseline, 6 months | PROMIS = Physical activity 10-items from 1(no days) to 5(6-7 days), Strength impact 12-item from 1(no days) to 5(6-7 days), Fatigue 23-item from 1(never) to 5(almost always), Mobility 23-item from 1(not able to do) to 5(with no trouble), Pain interference 13-item from 1(never) to 5(almost always), Upper extremity coordination 29-item from 1(not able to do) to 5(with no trouble), Global Health 9-item from 1(poor) to 5( excellent), Parent Proxy Mobility 8-item from 1(not able to do) to 5(with no trouble), Anxiety 8-item from 1(never) to 5(almost always), Depresson 8-item from 1(never) to 5(almost always), Parent Proxy Fatigue 8-item from 1(never) to 5(almost always), Peer relationships 8-item from 1(never) to 5(almost always), Parent proxy pain interference 8-item from 1(never) to 5(almost always), Pain intensity 1-item from 0(no pain) to 10(worst pain). Total scores range from 168 - 845. Lower scores indicate worse health, higher scores indicate better health |
| Secondary | Change in Dysarthria as Measured by the PATA Score | baseline, 6 months | PATA test measures the number of times a patient can say the word "PATA" in a 10 second time period. Number of "PATA"s spoken in 10 seconds indicates level of dysarthria. The higher the score the less dysarthria, the lower the score more dysarthria. |
| Secondary | Change in Nijmegen Pediatric CDG Rating Scale (NPCRS) | baseline, 6 months | The NPCRS is a scale that evaluates the patient's current function, system specific involvement, and current clinical assessment. Total scores range from 0 - 82. A mild score is 0-14, moderate score is 15-25, and severe is a score \>26. |
Source ClinicalTrials.gov
Outcomes8
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as |
|---|---|---|---|---|---|
| PRIMARY | Efficacy of Acetazolamide on Ataxia Measured Via Miniature International Cooperative Ataxia Rating Scale (Mini-ICARS) | baseline-6 months | Data was not collected nor analyzed for two subjects in the Acetazolamide arm and one subject in the Placebo arm | score on a scale | MEAN |
| SECONDARY | Abnormal Blood pH Value | through study completion, approximately 2 years | Participants | COUNT_OF_PARTICIPANTS | |
| SECONDARY | Electrolyte Balance Testing | through study completion, approximately 2 years | Participants | COUNT_OF_PARTICIPANTS | |
| SECONDARY | Urine Calcium Excretion Testing | through study completion, approximately 2 years | Participants | COUNT_OF_PARTICIPANTS | |
| SECONDARY | Examine Effect of Acetazolamide on PMM2 Biomarker Carbohydrate Deficient Transferrin | 6 months | Data was not collected nor analyzed for this outcome measure. Data collection for this outcome never occurred. PMM2 biomarker carbohydrate deficient transferrin was not collected for any subjects. The test was never collected for any subjects. | ||
| SECONDARY | Change in Patient Reported Outcomes Measurement Information System (PROMIS) Score | baseline, 6 months | Data was not collected nor analyzed for seven subjects in the Acetazolamide arm and four subjects in the Placebo arm | score on a scale | MEAN |
| SECONDARY | Change in Dysarthria as Measured by the PATA Score | baseline, 6 months | Data was not collected nor analyzed for four participants in the Acetazolamide arm and three participants in the Placebo arm | words/10 sec | MEAN |
| SECONDARY | Change in Nijmegen Pediatric CDG Rating Scale (NPCRS) | baseline, 6 months | Data was not collected nor analyzed for three participants in the Acetazolamide arm and one participant in the Placebo arm | score on a scale | MEAN |
Source ClinicalTrials.gov
Results by group14
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units |
|---|---|---|---|---|---|
| Efficacy of Acetazolamide on Ataxia Measured Via Miniature International Cooperative Ataxia Rating Scale (Mini-ICARS) | Acetazolamide | 1.64 | Standard Deviation 3.20 | score on a scale | |
| Efficacy of Acetazolamide on Ataxia Measured Via Miniature International Cooperative Ataxia Rating Scale (Mini-ICARS) | Placebo | 1.36 | Standard Deviation 3.23 | score on a scale | |
| Abnormal Blood pH Value | Acetazolamide | 0 | Participants | ||
| Abnormal Blood pH Value | Placebo | 1 | Participants | ||
| Electrolyte Balance Testing | Acetazolamide | 0 | Participants | ||
| Electrolyte Balance Testing | Placebo | 1 | Participants | ||
| Urine Calcium Excretion Testing | Acetazolamide | 0 | Participants | ||
| Urine Calcium Excretion Testing | Placebo | 0 | Participants | ||
| Change in Patient Reported Outcomes Measurement Information System (PROMIS) Score | Acetazolamide | 3.02 | Standard Deviation 4.45 | score on a scale | |
| Change in Patient Reported Outcomes Measurement Information System (PROMIS) Score | Placebo | 0.75 | Standard Deviation 4.09 | score on a scale |
1 to 10 of 14Source ClinicalTrials.gov
See all 14 results by groupParticipant flow6
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted |
|---|---|---|---|---|
| Overall Study | STARTED | Acetazolamide | 13 | |
| Overall Study | STARTED | Placebo | 12 | |
| Overall Study | COMPLETED | Acetazolamide | 2 | |
| Overall Study | COMPLETED | Placebo | 0 | |
| Overall Study | NOT COMPLETED | Acetazolamide | 11 | |
| Overall Study | NOT COMPLETED | Placebo | 12 |
Source ClinicalTrials.gov
Adverse events120
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events |
|---|---|---|---|---|---|---|
| other | Abdominal Pain | Gastrointestinal disorders | Acetazolamide | 1 | 13 | 1 |
| other | Abdominal Pain | Gastrointestinal disorders | Placebo | 1 | 12 | 1 |
| other | Acidosis | Metabolism and nutrition disorders | Acetazolamide | 0 | 13 | 0 |
| other | Acidosis | Metabolism and nutrition disorders | Placebo | 1 | 12 | 1 |
| other | Alanine Aminotransferase Increased | Investigations | Acetazolamide | 0 | 13 | 0 |
| other | Alanine Aminotransferase Increased | Investigations | Placebo | 1 | 12 | 1 |
| other | Anemia | Blood and lymphatic system disorders | Acetazolamide | 0 | 13 | 0 |
| other | Anemia | Blood and lymphatic system disorders | Placebo | 1 | 12 | 1 |
| other | Ataxia | Nervous system disorders | Acetazolamide | 1 | 13 | 2 |
| other | Ataxia | Nervous system disorders | Placebo | 0 | 12 | 0 |
1 to 10 of 120Source ClinicalTrials.gov
See all 120 adverse eventsAdverse event totals6
The totals the trial posted for each group.
| Total | Group | Affected | At risk |
|---|---|---|---|
| Total, all-cause mortality | Acetazolamide | 0 | 13 |
| Total, all-cause mortality | Placebo | 0 | 12 |
| Total, other adverse events | Acetazolamide | 9 | 13 |
| Total, other adverse events | Placebo | 8 | 12 |
| Total, serious adverse events | Acetazolamide | 1 | 13 |
| Total, serious adverse events | Placebo | 3 | 12 |
Source ClinicalTrials.gov
Papers0
The papers the trial lists on ClinicalTrials.gov.
None in this release.
Grants0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
None in this release.
Trial comparisons5
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
| Comparison | Source |
|---|---|
| Acetazolamide vs Placebo: Abnormal Blood pH Value | Trial comparisons |
| Acetazolamide vs Placebo: Electrolyte Balance Testing | Trial comparisons |
| Acetazolamide vs Placebo: Urine Calcium Excretion Testing | Trial comparisons |
| Acetazolamide vs Placebo: deaths from any cause | Trial comparisons |
| Acetazolamide vs Placebo: serious adverse events | Trial comparisons |
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this trial from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/trials/v1/NCT04679389
GET https://conductscience.org/api/trials/v1/NCT04679389/events?page=2