Outcome
Type |
Measure |
Description |
Time frame |
Safety issue |
Primary |
Efficacy of Acetazolamide on ataxia measured via Miniature International Cooperative Ataxia Rating Scale (mini-ICARS) |
To achieve this goal, we will compare 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. |
baseline-6 months |
|
Secondary |
Number of participants with assessed adverse events of long term acetazolamide administration as seen on blood pH value |
Blood pH level will be assessed through venous blood gas test. Percentage of patients treated with Acetazolamide who experience a drug related adverse event related to abnormal blood pH value. |
through study completion, an average of three years |
|
Secondary |
Number of participants with assessed adverse events of long term acetazolamide administration as seen on electrolyte balance testing |
Electrolyte balance will be assessed through combination testing on concentration of potassium, sodium, chloride, bicarbonate, magnesium, calcium, and phosphate. Percentage of patients treated with Acetazolamide who experience a drug related adverse event related to abnormal electrolyte balance. |
through study completion, an average of three years |
|
Secondary |
Number of participants with assessed adverse events of long term acetazolamide administration as seen on urine calcium excretion testing. |
Urine calcium excretion is measured by mg excreted per day. Percentage of patients treated with Acetazolamide who experience a drug related adverse event related to abnormal excretion of calcium. |
through study completion, an average of three years |
|
Secondary |
Examine effect of Acetazolamide on PMM2 biomarker carbohydrate deficient transferrin |
Carbohydrate deficient transferrin is reported by ratio. Number of patients with abnormal ratio result will be recorded to understand the effect acetazolamide has on this biomarker |
baseline and 6 months |
|
Secondary |
Examine effect of Acetazolamide on Patient Reported Outcomes Measuremen Information System (PROMIS) Score |
PROMIS score measures physical activity, strength impact, fatigue, mobility, pain interference, upper extremity coordination, global health, mobility, anxiety, depression, peer relationships, and pain intensity. These are patient reported scores. Higher score means more or the concept being measured (example: high score on Fatigue scale means high level of fatigue). |
baseline and 6 months |
|
Secondary |
Examine effect of Acetazolamide on dysarthria as measured by the PATA score |
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. |
baseline and 6 months |
|
Secondary |
Examine effect of Acetazolamide on disease progression as measured by the Nijmegen Pediatric CDG Rating Scale (NPCRS) |
The NPCRS is a scale that evaluates the patient's current function, system specific involvement, and current clinical assessment. A mild score is 0-14, moderate score is 15-25, and severe is a score >26. |
baseline and 6 months |
|