TerminatedPhase 2/3

Acetazolamide Efficacy in Ataxia in PMM2-CDG

Stopped: Lack of funding

United States25 participantsStarted 2021-03-17

Plain-language 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 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.

Who can participate

Age range4 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Criteria: * 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

What they're measuring

Efficacy of Acetazolamide on Ataxia Measured Via Miniature International Cooperative Ataxia Rating Scale (Mini-ICARS)

Timeframe: baseline-6 months

Trial details

NCT IDNCT04679389

SponsorMayo Clinic

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-01-24

Results submitted2025-01-13